Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay... |
ORPHA:79402 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Dermoodontodysplasia |
|
Mandibular prognathia, Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Tooth ag... |
ORPHA:1660 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Null Syndrome |
|
Ataxia, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, CNS hypomyelination, Di... |
ORPHA:280234 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Lipoatrophy, Micrognathia, Skin dimple, Thin vermilion b... |
ORPHA:261304 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Severe short stature, Carious tee... |
OMIM:203550 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition, Anonychia, Aplastic/hypoplastic toenail |
ORPHA:1094 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Neonatal respiratory distress, Short stature, Increased connective tissue, Carious teeth, Scarrin... |
OMIM:226670 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
19Q13.11 Microdeletion Syndrome |
|
Microcornea, Sparse hair, Cryptorchidism, Sparse or absent eyelashes, Aplasia cutis congenita, Re... |
ORPHA:217346 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Severe short stature, Shoulder dimple, Carious teeth, Da... |
ORPHA:1051 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sensorineural hearing impairment, Elbow ... |
OMIM:148210 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Short stature, C... |
OMIM:129400 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Macrotia |
OMIM:300803 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Conical tooth, Absent ... |
OMIM:618625 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno... |
ORPHA:1810 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, Widely spaced ... |
OMIM:617364 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Abnormality of the subungual region, Abnormal... |
ORPHA:79411 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Gait disturbance |
ORPHA:98766 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Lipodystrophy, Short stature, Spars... |
ORPHA:75496 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Facial palsy, Bilateral ptosis, Cutis laxa, Keratoconjunctivitis sicca,... |
ORPHA:85448 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Axonal loss, Cerebral cortical a... |
OMIM:617672 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... |
ORPHA:2325 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, ... |
OMIM:612843 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay, Hypodontia |
OMIM:246500 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Dermoodontodysplasia |
|
Hypodontia, Nail dysplasia, Thin skin, Dry skin, Trichodysplasia |
OMIM:125640 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... |
ORPHA:2985 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... |
OMIM:607250 |
Filippi Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Optic atrophy, Intrauterine growth retardation, Ser... |
OMIM:272440 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Cataract, Short stature, Hypermelanotic macule, Corneal opacity, Abnormal hair ... |
ORPHA:317 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Micrognathia, Skin ulcer, Fine hair, ... |
ORPHA:2500 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... |
ORPHA:1008 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Growth delay, Atrophic scars, Palmop... |
ORPHA:79405 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alo... |
OMIM:226650 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, Corneal erosion, Oligod... |
OMIM:609460 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ... |
ORPHA:238468 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... |
OMIM:614895 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Thick eyebrow, Posteriorly rotated ears, Short stature, Highly arched eyebrow, Microg... |
OMIM:613684 |
Bartsocas-Papas Syndrome 1 |
|
Skin tags, Cicatricial lagophthalmos, Bilateral cryptorchidism, Hypoplasia of the maxilla, Microg... |
OMIM:263650 |
Leprosy |
|
Urticarial plaque, Abnormality of the spleen, Abnormality of the seventh cranial nerve, Verrucous... |
ORPHA:548 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... |
OMIM:620378 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Growth delay, Atrophic scars, Palmop... |
ORPHA:79406 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Otoonychoperoneal Syndrome |
|
Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Prominent superior crus of antihe... |
OMIM:259780 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Her... |
OMIM:617052 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... |
OMIM:606483 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Unsteady gait, Optic atrophy, Dysmetria, Gai... |
OMIM:614877 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro... |
OMIM:619293 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Chiari type I malformation, Spastic gait, De... |
OMIM:619742 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails |
OMIM:190320 |
Recon Progeroid Syndrome |
|
Smooth philtrum, Attached earlobe, Prominence of the premaxilla, Dental crowding, Short stature, ... |
OMIM:620370 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Skin erosion, Localized ski... |
ORPHA:79410 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Abnormal cerebellar cortex morpholo... |
ORPHA:101111 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal dental morphology, Lipoatrophy, Irregular hyperpigmentation of back, Abnormal eyelash mo... |
ORPHA:1818 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... |
ORPHA:251393 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse hair, Ename... |
OMIM:613576 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Short stature, Corneal opacity, Thin vermilion border, Low-set ears, Alopecia of sca... |
ORPHA:1532 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Widow's pea... |
OMIM:606242 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Telecanthus, Posteriorly rotated ears, Pierre-Robin sequence, Cleft palate, Growth de... |
OMIM:619980 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Carious teeth, Axillary and groin hyperpigmentat... |
ORPHA:69125 |
Macdermot-Winter Syndrome |
|
Posteriorly rotated ears, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, ... |
OMIM:247990 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Ankyloblepharon, Pterygium, Macule, Alopecia, Short stature, Hyperme... |
ORPHA:910 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac... |
ORPHA:3214 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Scarring, Scarring alopecia of scalp, Erythroid hyperplasia, Los... |
ORPHA:95159 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Keratitis, Corneal scarring, Acral ulceration, Nail dysplasia, Nail dystrophy,... |
OMIM:256800 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... |
OMIM:602400 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation, Downt... |
ORPHA:79133 |
Cranioectodermal Dysplasia |
|
Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel morphology, Rhizomelia, Abnorm... |
ORPHA:1515 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... |
ORPHA:113 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Abnormal fingernail morpholo... |
ORPHA:742 |
Winchester Syndrome |
|
Subcutaneous nodule, Corneal opacity, Gingival overgrowth, Hirsutism |
OMIM:277950 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Macrotia, ... |
OMIM:234050 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premature loss of teeth, Hypopigmenta... |
ORPHA:69087 |
Kaufman Oculocerebrofacial Syndrome |
|
Micrognathia, Microcornea, High palate, Sparse hair, Neonatal respiratory distress, Short stature... |
OMIM:244450 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... |
OMIM:619787 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasia/Hypopl... |
ORPHA:2891 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
De Barsy Syndrome |
|
High palate, Sparse hair, Emphysema, Short stature, Cryptorchidism, Bilateral sensorineural heari... |
ORPHA:2962 |
Ring Chromosome 6 Syndrome |
|
Macrotia, Respiratory insufficiency, Low posterior hairline |
ORPHA:1448 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Supernumerary tooth... |
ORPHA:3473 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Short stature, Sparse eyebrow, Thin vermilio... |
ORPHA:139474 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Hyperpigment... |
ORPHA:2251 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic ... |
OMIM:619425 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cataract, Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Flexion... |
OMIM:614438 |
Ablepharon Macrostomia Syndrome |
|
Redundant skin, Hypoplasia of the maxilla, Abnormality of skin pigmentation, Sparse hair, Microdo... |
ORPHA:920 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, High palate, Shallow orbits, Conductive he... |
ORPHA:740 |
Cockayne Syndrome |
|
Dry hair, Congenital contracture, Lentiglobus, Abnormal dental morphology, Cerebral dysmyelinatio... |
ORPHA:191 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Peripheral axonal neuropathy, Small for gestational age, Decreased response to growth h... |
OMIM:275400 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Failure to thrive, Short stature, Cataract, Cryptorchidism, Cutis laxa, Corneal ... |
OMIM:219150 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Scarring alopecia of scalp, Leukopenia, Erythroid hyperplasia, Hypopigmentation of ... |
ORPHA:79277 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal ey... |
ORPHA:1812 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal nasolacr... |
ORPHA:3220 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Corneal erosion, Growth delay, Atrop... |
ORPHA:79409 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Sacral dimple, Posteriorly rotated ears, Short stature, Cryptorchidism, Cleft palate,... |
OMIM:615502 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplas... |
OMIM:226700 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Dry hair, Peripheral axonal neuropathy, Mild postnatal growth retardation, Cat... |
ORPHA:90324 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Oral mucosal blisters, Flexion contracture, Corneal scarring, Growth delay, A... |
OMIM:226600 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Posteriorly rotated ears, Short stature, Abnorm... |
ORPHA:1787 |
Adult Syndrome |
|
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Freckling, Sparse... |
OMIM:103285 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Trichothiodystrophy |
|
Ridged nail, Brittle hair, Multiple joint contractures, High, narrow palate, Protruding ear, Micr... |
ORPHA:33364 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, Webbed neck, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Thickened... |
OMIM:617506 |
Tooth Agenesis, Selective, 8 |
|
Selective tooth agenesis, Sparse eyebrow, Sparse hair, Microdontia, Dry skin |
OMIM:617073 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Micrognathia, Yellow nails, Cleft upper lip, Cleft palate, Webbed neck, Corneal ulceratio... |
OMIM:153400 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Severe demyelination of the white matter, Synophrys, Low anterior hairline, Downtur... |
ORPHA:391408 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Iris hypopigmentation, Short stature, Corneal opacity,... |
ORPHA:2719 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Delayed early-childhood social milestone development, Palmoplantar hyperkeratosis,... |
ORPHA:363523 |
Costello Syndrome |
|
Redundant skin, Hypoplastic toenails, Low-set, posteriorly rotated ears, Deep-set nails, Keratoco... |
ORPHA:3071 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Cryptorchidism, Low posterior hai... |
ORPHA:3134 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of... |
OMIM:305100 |
Syndromic X-Linked Intellectual Disability 7 |
|
Abnormal dental morphology, Short stature, Cryptorchidism, Obesity, Hypogonadism, Tooth malpositi... |
ORPHA:85274 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... |
ORPHA:2228 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Smooth tongue, Hypopigmentation of the skin, Alopecia, Aplasia cutis congenita on trunk or limbs,... |
ORPHA:79396 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Short philtrum, Sparse hair, Aplasia cutis congenita of scalp, Short stature, Spars... |
OMIM:613026 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormality of the dentit... |
ORPHA:573 |
Glass Syndrome |
|
Dental crowding, Apnea, Micrognathia, Conical tooth, Oligodontia, High palate, Sparse hair, Short... |
OMIM:612313 |
11P15.4 Microduplication Syndrome |
|
Synophrys, Macrotia, Posteriorly rotated ears, Highly arched eyebrow |
ORPHA:300305 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Myelin outfoldings, Onion ... |
OMIM:118200 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Epicanthus, Delayed CNS myelination, Posteriorly rotated ears, Protruding ... |
OMIM:617804 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Fragile nails, Abnormality of the dentition, Hearing impairment, Fine hair |
ORPHA:500166 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Abnor... |
ORPHA:3363 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... |
ORPHA:248 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Shallow orbits, Sparse hair... |
OMIM:601812 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Epicanthus, Alopecia, Short stature, Accessory oral frenulum, Hyperpigmented pa... |
ORPHA:88630 |
Short Syndrome |
|
Abnormal pupil morphology, Hypoplasia of the iris, Sparse hair, Microdontia, Megalocornea, Abnorm... |
ORPHA:3163 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Bilateral cryp... |
ORPHA:2409 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia, Respiratory insufficiency |
ORPHA:2487 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Abnormality of the dentition, Hypoplastic toenails, Absent thumbnail, Oligodontia, Absent toenail... |
ORPHA:79499 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s... |
ORPHA:2457 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Short stature, Sparse eyebrow, Bil... |
OMIM:618874 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... |
ORPHA:1775 |
Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn... |
ORPHA:166108 |
Oculoskeletodental Syndrome |
|
Epicanthus, Short stature, Abnormality of the dentition, Conductive hearing impairment, Sensorine... |
ORPHA:557003 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Los... |
OMIM:600143 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Mol... |
OMIM:229200 |
Hamamy Syndrome |
|
Micrognathia, Microcytic anemia, High palate, Sparse hair, Abnormal number of hair whorls, Hypopa... |
OMIM:611174 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Abnormality of the dentition, Abs... |
ORPHA:90153 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Orofacial cleft, Coarse hair, Hypoplasia o... |
ORPHA:1896 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Distal Duplication 6P |
|
Abnormal hair quantity, Sacral dimple, Cataract, Short stature, Micrognathia, Abnormal eyelash mo... |
ORPHA:1745 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia |
ORPHA:98916 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:180800 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Brittle hair, Redundant skin, Sparse hair, Abnormality of the nail, Genera... |
ORPHA:2963 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Ast... |
OMIM:618067 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Curly hair, Epicanthus, Short stature, Nevus, Large for gestational age, S... |
OMIM:611553 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Unsteady gait, Falls, Difficulty walking, Perip... |
ORPHA:2932 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi... |
ORPHA:202 |
Leopard Syndrome 2 |
|
Mandibular prognathia, Curly hair, Epicanthus, Short stature, Thick lower lip vermilion, Dry skin... |
OMIM:611554 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Delayed CNS myelination, Brittle hair, Short stature, Cataract, Hearing impairment, ... |
OMIM:616395 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ... |
OMIM:225060 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger... |
OMIM:164200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Micrognathia, Microcytic anemia, Protruding ear, Abnor... |
ORPHA:293967 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... |
OMIM:145900 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal salivary glan... |
ORPHA:2363 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h... |
OMIM:129490 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Cataract, Abnormal de... |
ORPHA:2791 |
Short Syndrome |
|
Micrognathia, Downturned corners of mouth, Megalocornea, Absence of subcutaneous fat, Ovarian cys... |
OMIM:269880 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Premature graying of hair, Microcornea, High palate, Sparse ... |
OMIM:268400 |
Hereditary Acrokeratotic Poikiloderma |
|
Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Papule, Short stature, Open bite... |
ORPHA:2907 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair... |
OMIM:619692 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Abnormality of skin pigmentatio... |
OMIM:216400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C... |
ORPHA:2890 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Failure to thrive, Delayed CNS myelination, Short stature, Highly arched eyebrow, Abnormality of ... |
OMIM:615802 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Small earlo... |
ORPHA:364577 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath... |
OMIM:182815 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Tangier Disease |
|
Peripheral axonal neuropathy, Cicatricial ectropion, Splenomegaly, Facial diplegia, Nail dystroph... |
OMIM:205400 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hearing impairment, Hypermela... |
ORPHA:90322 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration |
OMIM:607731 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... |
OMIM:169500 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm... |
ORPHA:89838 |
Intellectual Developmental Disorder, X-Linked 45 |
|
Macrotia, Protruding ear |
OMIM:300498 |
Scarf Syndrome |
|
Epicanthus, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Low... |
OMIM:312830 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... |
ORPHA:1264 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo... |
ORPHA:2348 |
Aredyld Syndrome |
|
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Low-set, posteriorly rotated e... |
ORPHA:1133 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Skin plaque, Papule, Fine hair |
OMIM:101840 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Cataract, Downturned corners of mouth, Neutropenia, Intrauterine growth ret... |
ORPHA:2643 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Supernumerary tooth, S... |
OMIM:617412 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Short stature, Corneal dystrophy, Abnormality of the de... |
ORPHA:1806 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin pigmentation, Hypoplasi... |
ORPHA:2092 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth,... |
OMIM:257980 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Conical... |
OMIM:617475 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin... |
ORPHA:3253 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Sh... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype... |
OMIM:601098 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... |
OMIM:604625 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Selective tooth agenesis, Neutropenia, Sparse hair, Microdontia, Juvenile catara... |
ORPHA:2909 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Unsteady gait, Peripheral ... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Gait disturbance, Segmental peripheral demyelination/remyeli... |
OMIM:311070 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Deep-set nails, Inguinal hernia, Abnormal fingernail morpholog... |
ORPHA:3447 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Trisomy 4P |
|
Smooth philtrum, Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Abnor... |
ORPHA:1738 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Epicanthus, Abnormal dental enamel morphology, Conductive hearing impairment, Fine hair, Aplasia/... |
ORPHA:3236 |
Mulibrey Nanism |
|
Dental crowding, Short stature, Corneal dystrophy, Absent frontal sinuses, Hypoplastic frontal si... |
OMIM:253250 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Short stature, Hydrocele testis, Notched primary central incisor, Low-set ears... |
OMIM:620062 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Dental maloccl... |
OMIM:618727 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Otoonychoperoneal Syndrome |
|
Underfolded helix, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal he... |
ORPHA:2793 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Epicanthus, Inguinal hernia, Hypergonadotropic hypogonadism... |
ORPHA:10 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop... |
OMIM:224750 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Small for gestational age, Short stature, Micrognathia, Cryptorchidism, Sensorineural... |
OMIM:616817 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Atrophic scars, Nail dystrophy,... |
OMIM:226730 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... |
ORPHA:90368 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
Hall-Riggs Syndrome |
|
Epicanthus, Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary te... |
OMIM:234250 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cataract, Asp... |
OMIM:240300 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Carious teeth, Co... |
ORPHA:2316 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Unsteady gait, Impaired tandem gait, Axonal loss, Clusters of axo... |
ORPHA:101097 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... |
ORPHA:79397 |
Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair... |
ORPHA:1807 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
48,Xyyy Syndrome |
|
Epicanthus, Asthma, Thick lower lip vermilion, Irregularly spaced teeth, Azoospermia, High palate... |
ORPHA:99329 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Flexion contracture, Protruding ear, Microcornea, Sparse hair, Tiger tail banding, ... |
OMIM:601675 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Choreoathetosis, Axonal loss,... |
ORPHA:206594 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Truncal obesity, Thin vermilion border, Hypogonadism, Sparse body ... |
ORPHA:261483 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Ectodermal Dysplasia/Short Stature Syndrome |
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Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Asthma, Hyperkeratosi... |
OMIM:616029 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
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Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Short stature, Hearing impairment, S... |
OMIM:619989 |
Oculodentodigital Dysplasia |
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Mandibular prognathia, Brittle hair, Micrognathia, Microcornea, Conductive hearing impairment, Sp... |
ORPHA:2710 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
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Inguinal hernia, Cryptorchidism, Fine hair, Hypodontia, Sparse hair, Microdontia |
ORPHA:1174 |
Stuve-Wiedemann Syndrome 1 |
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Apnea, Micrognathia, Knee flexion contracture, Blotching pigmentation of the skin, Smooth tongue,... |
OMIM:601559 |
2Q32Q33 Microdeletion Syndrome |
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Dental crowding, Short stature, Micrognathia, Cleft palate, Fine hair, Growth delay, Oligodontia,... |
ORPHA:251019 |
Gordon Holmes Syndrome |
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Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Primary amenorrhea, Cerebral atrophy, ... |
OMIM:212840 |
Leopard Syndrome 3 |
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Few cafe-au-lait spots, Curly hair, Numerous nevi, Posteriorly rotated ears, Short stature, Epide... |
OMIM:613707 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Delayed eruption of teeth, Short stature, Camptodactyly of finger, Moderately short stature, Ciga... |
OMIM:612350 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Decreased number of large peripheral ... |
OMIM:271245 |
Flynn-Aird Syndrome |
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Alopecia, Cataract, Carious teeth, Hyperkeratosis, Dermal atrophy, Progressive sensorineural hear... |
OMIM:136300 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Orthokeratos... |
OMIM:607626 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
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Thin upper lip vermilion, Epicanthus, Optic nerve hypoplasia, Hyperopic astigmatism, Micrognathia... |
ORPHA:363686 |
Charcot-Marie-Tooth Disease, Type 4K |
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Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Steppage gait, Onion bulb formation, Peripheral demyelination, Difficulty walking |
OMIM:618279 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Brittle hair, Dental crowding, Postnatal growth retardation, Tracheobronchomalacia, Pierre-Robin ... |
OMIM:619184 |
Spinocerebellar Ataxia 18 |
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Cerebellar atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neurop... |
OMIM:607458 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
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Preauricular pit, Absent lacrimal punctum, Sacral dimple, Hypoplastic lacrimal duct, Cryptorchidi... |
OMIM:273390 |
Cerebellofaciodental Syndrome |
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Cataract, Short stature, Sparse eyebrow, Cryptorchidism, Preauricular skin tag, Dental malocclusi... |
OMIM:616202 |
Hypotrichosis 13 |
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Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Medial flaring of the eyebrow, Dental crowding, Short stature, Congenital diaphragmatic hernia, R... |
OMIM:617602 |
Cardiocranial Syndrome, Pfeiffer Type |
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Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Short stature, Hearin... |
OMIM:618363 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation... |
OMIM:608340 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Abnormal hair quantity, Low-set, posteriorly rotated ears, Severe short stature, Lipoatrophy, Mic... |
ORPHA:2617 |
Autosomal Spastic Paraplegia Type 58 |
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Cerebellar atrophy, Spastic ataxia, Unsteady gait, Dysmetria, Gait ataxia, Cerebral atrophy, Tip-... |
ORPHA:397946 |
Hair Defect With Photosensitivity And Mental Retardation |
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Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Cerebellar-Facial-Dental Syndrome |
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Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... |
ORPHA:444072 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
Pfeiffer-Palm-Teller Syndrome |
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Epicanthus, Abnormal pinna morphology, Short stature, Blepharophimosis, Enamel hypoplasia |
ORPHA:2871 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Dermal translucency, Short stature, Postnatal growth retardation, Thrombocytopenia, Optic atrophy... |
OMIM:612199 |
Arthrogryposis And Ectodermal Dysplasia |
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Absent eyebrow, Entropion, Short stature, Abnormal dental enamel morphology, Trichiasis, Cleft up... |
OMIM:601701 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Trichothiodystrophy 8, Nonphotosensitive |
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Thin upper lip vermilion, Delayed CNS myelination, Sparse eyebrow, Protruding ear, Cutis laxa, Lo... |
OMIM:619691 |
Gand Syndrome |
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Thin upper lip vermilion, Blepharophimosis, Wide mouth, Narrow palpebral fissure, Short philtrum,... |
OMIM:615074 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Cerebellar atrophy, Unsteady gait, Limb ataxia, Hypogonadism, Cerebellar hypoplasia, Truncal ataxia |
OMIM:615768 |
Nicolaides-Baraitser Syndrome |
|
Smooth philtrum, Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal... |
ORPHA:3051 |
Koolen-De Vries Syndrome |
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High, narrow palate, Protruding ear, Microdontia, Short stature, Abnormal dental enamel morpholog... |
ORPHA:96169 |
Tonne-Kalscheuer Syndrome |
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Short stature, Congenital diaphragmatic hernia, Micrognathia, Shyness, Cryptorchidism, Velopharyn... |
OMIM:300978 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Noonan Syndrome 4 |
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Curly hair, Epicanthus, Posteriorly rotated ears, Short stature, Large for gestational age, Spars... |
OMIM:610733 |
Arthrochalasia Ehlers-Danlos Syndrome |
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Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Mi... |
ORPHA:1899 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
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Smooth philtrum, Posteriorly rotated ears, Corneal opacity, Micrognathia, Keratitis, Synophrys, W... |
OMIM:602562 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog... |
ORPHA:1897 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Sensory axonal neuropathy |
OMIM:617770 |
Hall-Riggs Syndrome |
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Delayed eruption of teeth, Epicanthus, Slow-growing hair, Thick hair, Abnormal dental enamel morp... |
ORPHA:2107 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Decreased fertility, Palmo... |
ORPHA:1816 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow mouth, Synophrys, Macrotia, Obesity, Narrow palate, Fine hair, Upslanted pal... |
OMIM:620250 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Alopecia, Ridged nail, Short stature, Abnormal eyelid mor... |
ORPHA:37 |
Sjogren-Larsson Syndrome |
|
Short stature, Opacification of the corneal epithelium, Flexion contracture, Astigmatism, CNS dem... |
OMIM:270200 |
Rothmund-Thomson Syndrome Type 1 |
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Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Microdontia, Juvenile cataract, Hypop... |
ORPHA:221008 |
Incontinentia Pigmenti |
|
Ridged nail, Conical tooth, Abnormality of skin pigmentation, Coarse hair, Oligodontia, Pallor, S... |
OMIM:308300 |
Aredyld |
|
Mandibular prognathia, Generalized hypotrichosis |
OMIM:207780 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
Uncombable Hair Syndrome 1 |
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Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation, Short stature, Narrow mouth, Abnormal or... |
ORPHA:1355 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Small for gestational age, Decreased response to growth ... |
OMIM:216550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Dyspnea, Woolly hair, Palmoplantar keratoderma |
OMIM:610476 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Sh... |
ORPHA:502 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Abnormality of skin pigmentatio... |
OMIM:133540 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Epicanthus, Carious teeth, Growth delay, Secondary hyperparathyroidism... |
OMIM:277440 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... |
OMIM:270550 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Epicanthus, Alopecia, Brittle hair, Short stature, Upslanted palpebral fissure, High palate, Intr... |
ORPHA:50812 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Lipodystrophy, Redundant skin, Abnormality of hair texture, Cariou... |
OMIM:219200 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Hyperpigmentation of the skin, Mi... |
ORPHA:444002 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Ectropion, Short stature, Keratitis, Corneal erosion, Palmoplantar keratoderma, Failure... |
ORPHA:79394 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Corneal opac... |
ORPHA:1647 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Peripheral axonal neuropathy, Posteriorly rotated ears, Fine hair, Hi... |
OMIM:615278 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Micrognathia, Microcytic anemia, Growth delay, Pigment... |
OMIM:600462 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Macrodontia, Short stature, Blepharophimosis, Low anterior hairline, Dental malocclus... |
OMIM:617883 |
Abruzzo-Erickson Syndrome |
|
Macrotia, Hearing impairment, Protruding ear |
OMIM:302905 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Hypoplastic fingernail, Abnormal dental enamel morpholo... |
ORPHA:257 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Short stature, D... |
ORPHA:819 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy... |
OMIM:141300 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Prelingual sensorineural he... |
ORPHA:477 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Iris colob... |
OMIM:234100 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Macrotia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Heari... |
ORPHA:2850 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation |
OMIM:614487 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Gait imbalance, Difficulty walking, Loss of ambulation, Peripheral ... |
ORPHA:99953 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper... |
OMIM:227260 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Anterior pituitary hypoplasia, Micrognathia, Knee flexion contracture, Spa... |
OMIM:151050 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Widely spaced primary teeth, Conjunct... |
ORPHA:90321 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Truncal ataxia |
OMIM:616948 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Slow-growing hair, Short stature, Micrognathia, Abnormal hair morphology, ... |
ORPHA:3082 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, CNS demyelination, Neuronal loss in cent... |
OMIM:610245 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Short stature, Supernumerary tooth, Protruding ear, Lo... |
OMIM:190351 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Thin upper lip vermilion, Small for gestational age, Short stature, Postnatal growth retardation,... |
ORPHA:231137 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Loss of ambulation, CNS demyelination, Peripheral demyelination, Gait ataxia |
OMIM:249900 |
Snijders Blok-Campeau Syndrome |
|
Epicanthus, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Astigma... |
OMIM:618205 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormal denta... |
ORPHA:816 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Peripheral axonal atrophy,... |
OMIM:605588 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Short stature, Cachexia, Sparse... |
ORPHA:884 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Sacral dimple, Widow's peak, Thick... |
OMIM:615828 |
Marshall-Smith Syndrome |
|
Failure to thrive, Protruding tongue, Optic atrophy, Gingival overgrowth, Thin skin, Conductive h... |
ORPHA:561 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Short stature, Hypoplasia... |
ORPHA:50814 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Erythrodontia, Short stature, Hemolytic anemia, Thrombocytopenia, Splen... |
OMIM:263700 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Sudanophilic leukodystrophy, Flexion contracture, Downturned corners of mouth, Hypo... |
OMIM:264090 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal pons morphology, Gait d... |
ORPHA:206448 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Ohdo Syndrome |
|
Epicanthus, Short stature, Hearing impairment, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypo... |
OMIM:249620 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Conical tooth, Cleft upper lip, Ectropion of lower eyelids, Euryblepharon, Hypodon... |
OMIM:119580 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Severe short stature, Abnormal dental enamel morphol... |
ORPHA:1005 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Short stature, Micrognathia, Sparse eyebrow, Abnormali... |
ORPHA:77258 |
Noonan Syndrome 6 |
|
Curly hair, Epicanthus, Juvenile myelomonocytic leukemia, Short stature, Long eyebrows, Cryptorch... |
OMIM:613224 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Short stature, Postnatal growth retardation, Weight loss, Iron defic... |
OMIM:212750 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Peripheral demyelination |
ORPHA:99944 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Micrognathia, Abnormal hair morphology, Abnormality of the dentition, Ge... |
ORPHA:90154 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu... |
ORPHA:101070 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Facial erythema, High palate, Neutropenia, Sparse hair, Microdontia, Juvenile ca... |
ORPHA:221016 |
Seckel Syndrome 5 |
|
Short stature, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia,... |
OMIM:613823 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, High, narrow palate, Conduct... |
ORPHA:2980 |
Cranioectodermal Dysplasia 4 |
|
Epicanthus, Short stature, Recurrent pneumonia, Onychogryposis, Decreased nasal nitric oxide, Pro... |
OMIM:614378 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Waardenburg Syndrome, Type 2F |
|
Telecanthus, Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural he... |
OMIM:619947 |
Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Lens luxation, Ectopia lentis, Hypoplasia o... |
OMIM:218340 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Flexion contracture,... |
OMIM:620001 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Short stature, Rhizomelia, Cataract, Abnormality of the dentition, Growth d... |
ORPHA:177 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Alopecia, Short stature,... |
OMIM:311200 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Smooth philtrum, Telecanthus, Small for gestational age, Short stature, Blepharophimosis, Postnat... |
OMIM:611091 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... |
ORPHA:280365 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation |
OMIM:610100 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Postnatal growth retardation, Disproportionate short stature, Upslanted palpeb... |
OMIM:210720 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Short stature, Spar... |
ORPHA:35173 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Webbed neck, High palate, Thickened helices, Sparse hair, Dystrophi... |
ORPHA:1340 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Low-set, posteriorly rotated ears, Inguinal hernia, Preauricular pit, Short st... |
ORPHA:1786 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait |
ORPHA:2386 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Short stature, Pneumonia, Corneal opacity, ... |
ORPHA:1867 |
Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Leukonychia, Beau's lines,... |
OMIM:234580 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Dental crowding, Short stature, Dyspnea, Severe conductive hearing impairment, M... |
ORPHA:230851 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Multiple joint contractures, Numerous nevi, Micrognat... |
ORPHA:536471 |
Noonan Syndrome 8 |
|
Curly hair, Epicanthus, Short stature, Large for gestational age, Cryptorchidism, Hyperkeratosis,... |
OMIM:615355 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Sen... |
OMIM:619806 |
Lelis Syndrome |
|
Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel... |
ORPHA:140936 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Epicanthus, Tented upper lip vermilion, Thin upper lip vermilion, Delayed CNS myelina... |
OMIM:620075 |
Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Posteriorly rotated ears, Carious teeth, Overweight, ... |
OMIM:619229 |
Squalene Synthase Deficiency |
|
Epicanthus, Posteriorly rotated ears, Failure to thrive in infancy, Optic nerve hypoplasia, Micro... |
OMIM:618156 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Macrotia |
OMIM:309549 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Leukopenia, Short stature, Cryptorchidism, Astigmatism, Low-set ears, Small ... |
OMIM:301056 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Short stature, Camptodactyly of finger, Corneal opacity, Abnormal eyelid morpho... |
ORPHA:1794 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st... |
OMIM:615280 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination, Gait disturbance |
OMIM:611228 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Epicanthus, Abnormal fingernail morphology,... |
ORPHA:2701 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Delayed CNS myelination, Posteriorly rotated ears, Short stature, Corne... |
OMIM:617763 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Large for gestational age, Respiratory insufficiency, Microcornea, Median cleft ... |
ORPHA:2432 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Short stature, Hearing impairment, Blepharophimosis, Cryptorchidism, Camptodactyly of t... |
ORPHA:127 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Steppage gait, Peripheral ... |
OMIM:609260 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Micrognathia, Widely spaced teeth, High palate, Microdontia, Bifid uvula, Short stature, Rhizomel... |
OMIM:266920 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Myelin outfoldings, Cerebral... |
OMIM:609136 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cataract, Cachexia, Hypo... |
ORPHA:2930 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Synophrys, Macrotia |
OMIM:615541 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:608703 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodo... |
OMIM:601216 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Sensorineural hearing impairment, Hyperkeratosis, Hypogonadism... |
ORPHA:2574 |
Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:604213 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Abnormalit... |
ORPHA:1520 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Inguinal hernia, Abnormal dental en... |
ORPHA:96263 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Corneal opacity, Alopecia totalis, Micrognathia, Hypoplastic toenails, Ankylobl... |
ORPHA:1234 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Micrognathia, Conical tooth, Ankyloblepharon, Protruding ear, Hyperconvex fingernails, Coarse hai... |
ORPHA:1071 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic... |
ORPHA:763 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Forsythe-Wakeling Syndrome |
|
Macrotia, Low-set ears |
OMIM:613606 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color, Short stature, Abnormal eyelash morphology, Conductive hearing impai... |
ORPHA:1006 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Cupped ear, Lacrimal duct a... |
OMIM:620193 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Primary a... |
OMIM:607080 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation, In... |
OMIM:618184 |
Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Fragile nails, Alopecia, Aplasia/Hy... |
ORPHA:79474 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Cerebral atrophy, Axonal loss, Gait disturbance, Abnormal upper motor neuron mor... |
OMIM:221770 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Dysmen... |
ORPHA:79083 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdo... |
OMIM:617360 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate, ... |
OMIM:224690 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythema, Palmoplantar hyperkeratosis, Erythematous p... |
ORPHA:158673 |
Seckel Syndrome 1 |
|
Pancytopenia, Dental crowding, Selective tooth agenesis, Abnormal pinna morphology, Micrognathia,... |
OMIM:210600 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal cerebellum morphology, CNS hypomyelination, Leukodystrophy, Loss of ambulation, Onion bu... |
OMIM:610532 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Talon cusp, Optic atrophy, Cleft palat... |
OMIM:605282 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Short stature, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Narrow ph... |
ORPHA:163654 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Short stature, Abnormal dental enam... |
ORPHA:96264 |
Heyn-Sproul-Jackson Syndrome |
|
Epicanthus, Severe short stature, Decreased body weight, Sparse hair, Intrauterine growth retarda... |
OMIM:618724 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Glossoptosis, Sparse hair, Alopecia, Sparse eyebrow, Cryptorch... |
ORPHA:2108 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Sensorineural hearing impair... |
ORPHA:1883 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Deep philtrum, Protruding ear, Sparse hair, Microdontia, Short stature, Thin nail, ... |
OMIM:190350 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Pancytopenia, Splenomegaly, Optic atrophy, Retrognathia, Dry skin, Growth delay, Hype... |
OMIM:614576 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Abnorma... |
ORPHA:534 |
Cornelia De Lange Syndrome 5 |
|
Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate, Widely ... |
OMIM:300882 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Abnormal dental enamel morphology, ... |
ORPHA:79430 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Hypoplasia of the maxilla, Fle... |
OMIM:218000 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology, Irregular hyperpigmen... |
ORPHA:1214 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Sparse scalp hair, High-frequency sensorineural hearing impairment, Postna... |
ORPHA:2324 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Hyperconvex nail, Thick lower lip vermi... |
OMIM:157980 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation |
OMIM:615035 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebrow, Ten... |
ORPHA:894 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Delayed CNS myelination, Corneal opacity, Delayed myelination, Low-set ears... |
OMIM:615273 |
Incontinentia Pigmenti |
|
Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of th... |
ORPHA:464 |
Odontomicronychial Dysplasia |
|
Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee... |
ORPHA:1811 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Short stature, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Chime Syndrome |
|
Epicanthus, Abnormal dental morphology, Corneal opacity, Hearing impairment, Abnormality of the d... |
ORPHA:3474 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Short stature, Sp... |
OMIM:300953 |
Lamellar Ichthyosis |
|
Short stature, Abnormality of the dentition, Lack of skin elasticity, Hyperkeratosis, Everted low... |
ORPHA:313 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... |
OMIM:617392 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Ectopia lentis, Macrotia, Fine hair |
OMIM:272300 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... |
OMIM:261900 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of taste sensation, Sinusitis, Facial palsy, Pneumonia, Subcutaneous nodule, Skin ulc... |
ORPHA:68 |
Rodrigues Blindness |
|
Short stature, Sclerocornea, Nasal flaring, Protruding ear, Fine hair, Microcornea, Sparse hair, ... |
OMIM:268320 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Bilateral cryptorchidism, High, narrow palat... |
OMIM:180849 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Infertility, Hearing impairment |
OMIM:300719 |
Legius Syndrome |
|
Epicanthus, Inguinal freckling, Posteriorly rotated ears, Micrognathia, High, narrow palate, Axil... |
OMIM:611431 |
Cardiofaciocutaneous Syndrome 1 |
|
Numerous nevi, Micrognathia, Deep philtrum, High palate, Sparse hair, Absent eyebrow, Short statu... |
OMIM:115150 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Alveolar ridge overgrowth, Corneal scarring, Atypical scarring of skin, Aplasia of the... |
ORPHA:642 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Ciliary... |
ORPHA:1882 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Coarse hair, High palate, Sparse hair, Emphysema, Short stat... |
ORPHA:357074 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Short stature, Pseudohypoparathyroidism, Obesity, Enamel hyp... |
OMIM:612463 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Small for gestational age, Hypermelanotic macule, Short stature, Corneal opacity, Th... |
ORPHA:1830 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Hypogeusia, Growth delay, Decreased... |
OMIM:223900 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Small for gestational age, Slow-growing hair, Short stature, Microcornea, Mild intr... |
OMIM:616943 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Telecanthus, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Up... |
ORPHA:228390 |
Intellectual Disability, Wolff Type |
|
Macrotia, Hypoplastic superior helix, Abnormality of the nail, Low posterior hairline |
ORPHA:3080 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Underfolded helix, Hyperconvex ... |
ORPHA:2563 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Posteriorly rotated ears, Small for gestational age, Blepharophimosis, Low posterior ... |
OMIM:613174 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Palmoplantar keratoderma, Hypodontia... |
ORPHA:50944 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Peripheral hypo... |
OMIM:605285 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Iris hypopigmentation, Short stature, Cleft up... |
OMIM:610443 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Flexion contracture, Knee flexion contracture, Cryptorchidism, CNS demyelination, J... |
OMIM:214150 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Dental crowding, Decreased ... |
OMIM:608612 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit... |
OMIM:106260 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia, Synophrys, Low posterior hair... |
OMIM:619320 |
X-Linked Intellectual Disability, Porteous Type |
|
Macrotia, Cupped ear, Frontal balding |
ORPHA:93945 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... |
OMIM:210900 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Ova... |
ORPHA:2221 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Macrotia |
OMIM:300928 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair, Abnormal odontoid tissue morphology |
ORPHA:401911 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Macrotia, Highly arched eyebrow |
OMIM:616154 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, Low anterior hairline, Protruding... |
ORPHA:235 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Inappropriate laughter, Hyp... |
ORPHA:411515 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Carious teeth... |
ORPHA:1390 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu... |
ORPHA:2028 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Hypopigmentation of hair, Hearing impairment, Sensorineural hearing impairment, Hypo... |
ORPHA:895 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:615386 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Macrotia, Low anterior hairline |
OMIM:617090 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality o... |
ORPHA:2095 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Moderately short stature, Flexion contracture, Thin skin, Failure to thrive, Downslanted palpebra... |
ORPHA:157965 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Epidermoid cyst, Abnormal eyelid morphology, Carious teeth, Conical tooth... |
ORPHA:1997 |
Ablepharon-Macrostomia Syndrome |
|
Redundant skin, Sparse hair, Cryptophthalmos, Absent eyebrow, Microtia, third degree, Hypoplasia ... |
OMIM:200110 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Spotty hypopigmentati... |
OMIM:619719 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... |
OMIM:256850 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia,... |
OMIM:212780 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Short stature, Neutropenia |
ORPHA:90023 |
Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... |
ORPHA:1193 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Posteriorly rotated ears, Short stature, Micrognathia, High palate, Short philtru... |
OMIM:201170 |
Chromosome 3Q29 Deletion Syndrome |
|
Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:609425 |
Noonan Syndrome 7 |
|
Curly hair, Epicanthus, Numerous nevi, Short stature, Large for gestational age, Low posterior ha... |
OMIM:613706 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Optic atrophy, Neurodegeneration, CNS demyelination, Peripheral demyeli... |
OMIM:245200 |
Bohring-Opitz Syndrome |
|
Micrognathia, Flexion contracture, Low anterior hairline, Neonatal respiratory distress, Short st... |
OMIM:605039 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Hypoplastic fingernail, Abnormal pinna morphology,... |
ORPHA:1912 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Piebald Trait-Neurologic Defects Syndrome |
|
Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Senso... |
ORPHA:2885 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Eyelid coloboma, Hy... |
ORPHA:861 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Macrotia, Highly arched eyebrow |
ORPHA:438178 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Neonatal death, Microdontia, Sh... |
OMIM:259775 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Large for gestational age, High palate, Sparse hair, Short stature, Cryptorchidism, Loose anagen ... |
OMIM:607721 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ... |
OMIM:224900 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Peripheral demyelination |
OMIM:272200 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Posteriorly rotated ears |
OMIM:618392 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... |
OMIM:607706 |
Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Short stature, Cachexia, Micrognathia, ... |
ORPHA:2471 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Short stature, Carious teeth, ... |
OMIM:607812 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh... |
ORPHA:3455 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Tented upper lip vermilion, Delayed CNS myelination, Cataract, Retinal pigment epithe... |
OMIM:614105 |
Silver-Russell Syndrome 2 |
|
Short stature, Micrognathia, Downturned corners of mouth, Thin skin, Intrauterine growth retardation |
OMIM:618905 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Facial palsy, Increased connective tissue, Flexion contracture, High palate, Onion bulb formation... |
OMIM:607684 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Delayed CNS myelination, Hearing impairment |
OMIM:618349 |
Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic... |
ORPHA:284180 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Abnormality of dental color, Short stature, Nevus sebaceous, Corneal opacity, Linear ne... |
OMIM:163200 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Short stature,... |
ORPHA:3079 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Respiratory distress, Short stature, Corn... |
OMIM:256810 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Corneal opacity, Thick hair, Postnatal growth retardation, Excessive wrinkled sk... |
ORPHA:357058 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Deep philtrum, Sparse hair, Long philtrum, Juvenile myelomonocytic leukemia, Short stature, Highl... |
OMIM:613563 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Micrognathia, Developmental catarac... |
OMIM:610756 |
Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, Microtia, High palate, Hypodontia, Sparse... |
OMIM:616854 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Postnatal growth retardation, Cr... |
ORPHA:276432 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Mu... |
OMIM:181270 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Smooth philtrum, Delayed eruption of teeth, Epicanthus, Mild postnatal growth retardation, Crypto... |
OMIM:235510 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis,... |
ORPHA:525 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Short stature, Corneal opacity, Spl... |
ORPHA:585 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur... |
OMIM:616733 |
Warburg-Cinotti Syndrome |
|
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... |
OMIM:618175 |
Cornelia De Lange Syndrome 2 |
|
Smooth philtrum, Thin upper lip vermilion, Thick eyebrow, Short stature, Highly arched eyebrow, M... |
OMIM:300590 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Severe short stature, Cachexia, Absence of subcutaneous fat, Opt... |
OMIM:610965 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Scaling skin, Neonatal death, Intrauterine growth retardation,... |
OMIM:275210 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Slender build, Short stature, Uplifted earlobe, Cryptorchidism, Narrow pal... |
ORPHA:364028 |
Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, High... |
OMIM:300887 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... |
OMIM:608670 |
Auriculoosteodysplasia |
|
Attached earlobe, Macrotia, Aplasia/Hypoplasia of the earlobes |
ORPHA:114 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth |
ORPHA:2266 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Posteriorly rotated ears, Low anterior hairline, Upper eyelid edema, Protruding ea... |
OMIM:616819 |
Smith-Kingsmore Syndrome |
|
Curly hair, Thin upper lip vermilion, Rhizomelia, Large for gestational age, Cryptorchidism, Thro... |
OMIM:616638 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low ant... |
ORPHA:193 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Cachexia, Carious teeth, Skin ulcer, Dermal atrophy, Progressive sensorineura... |
ORPHA:2047 |
Schimke Immunoosseous Dysplasia |
|
Macule, Pancytopenia, Small for gestational age, Hypermelanotic macule, Bilateral cryptorchidism,... |
OMIM:242900 |
Noonan Syndrome 10 |
|
Curly hair, Epicanthus, Short stature, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchi... |
OMIM:616564 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trunca... |
OMIM:616204 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Dysmetria, Pontocerebellar atrophy, D... |
ORPHA:171629 |
Macs Syndrome |
|
Irregular dentition, Redundant skin, Micrognathia, High palate, Sparse hair, Decreased body weigh... |
OMIM:613075 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Melanocytic nevus, Fine hair, Hyperkeratosis, Fre... |
ORPHA:1573 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap... |
OMIM:619503 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Disproportionate short stat... |
ORPHA:2637 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Synophrys, Downturned corners of mouth, Microcornea, Hig... |
ORPHA:1327 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flexi... |
OMIM:208050 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality of ... |
ORPHA:363417 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Short stature, Micrognat... |
ORPHA:73272 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Wi... |
OMIM:616351 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cataract, Corneal opacity, Deep phil... |
OMIM:152950 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Macrotia |
ORPHA:397933 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfoldings, Onion bulb formation |
OMIM:615284 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Tented upper lip vermilion, Inguinal hernia, Cataract, Uplifted earlobe, Nevus flamme... |
OMIM:616449 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Posteriorly rotated ears, Short stature, Growth delay, Low-set ears, Malar flattening, Failure to... |
OMIM:614727 |
Noonan Syndrome 14 |
|
Curly hair, Epicanthus, Lymphopenia, Lacrimal duct stenosis, Posteriorly rotated ears, Short stat... |
OMIM:619745 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Furrowed tongue, Fine hair, Hyperkera... |
ORPHA:1839 |
Poikiloderma With Neutropenia |
|
Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Short stature, Sparse eyebrow, Retrognathi... |
OMIM:604173 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, High p... |
ORPHA:124 |
Gapo Syndrome |
|
Epidermoid cyst, Redundant skin, Micrognathia, High, narrow palate, Protruding ear, Eruption fail... |
OMIM:230740 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Leukocytosis, Conjunctivitis, Microangiopathic hemolytic... |
ORPHA:810 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Abnormality of hair texture, Micrognathia, Synophrys, Abnormality of dermal melanosom... |
ORPHA:73223 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Pituitary adenoma, Obesity, Facial erythema, Abdominal obesity, Thin skin, Olig... |
OMIM:219090 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... |
OMIM:245660 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Keratoconjunctivitis sicca,... |
ORPHA:14 |
Cranioectodermal Dysplasia 3 |
|
Telecanthus, Short stature, Short nail, Rhizomelia, Micrognathia, Broad nail, Fine hair, Hypoplas... |
OMIM:614099 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Natal tooth, Epidermoid cyst, Angular cheilitis, Subungual hyperkera... |
OMIM:167210 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypoplastic toenails, Macrotia, Protruding ear |
ORPHA:2013 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Epicanthus, Thin upper lip vermilion, Carious teeth, Prominent antitragus, ... |
OMIM:620191 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Sparse hair, Short stature, Diastema, Gingival overgrowth, Low-set ears, R... |
OMIM:212066 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Short stature, High, narr... |
ORPHA:2183 |
Down Syndrome |
|
Epicanthus, Cataract, Protruding tongue, Abnormality of the dentition, Conductive hearing impairm... |
ORPHA:870 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormal pinna morphology, Abnormality of the dentition, Cleft upper lip, Nasolacrimal duct obstr... |
OMIM:273400 |
Ruijs-Aalfs Syndrome |
|
Cataract, Lipodystrophy, Short stature, Micrognathia, Posterior subcapsular cataract, Elbow flexi... |
OMIM:616200 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Cachexia, Keratitis, Abnormality of the spleen, Skin nodule, Abnormality of... |
ORPHA:2552 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Corneal opacity, Thin vermilion border, Narrow ... |
ORPHA:2370 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Short... |
ORPHA:2751 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Disproportionate short-limb short stature, Stillbirth, Thin skin, Developmental cataract |
OMIM:259410 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Axonal degener... |
OMIM:600882 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Cataract, Alopecia totalis, Subcutaneous nodule, Lack of skin ela... |
ORPHA:1366 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Flexion contracture, Periorificial hype... |
OMIM:614594 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, H... |
ORPHA:3145 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Warburg Micro Syndrome 1 |
|
Facial hypertrichosis, Macrotia, Low-set ears, Hypertrichosis |
OMIM:600118 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, High, narrow palate, Abnormality of the gingiva, Subcutaneous nodule, Abnormal pu... |
ORPHA:286 |
Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Dentinogenesis imperfecta, Protruding ear, Thin vermilion border, Long eyelashes, ... |
OMIM:614856 |
Bazex-Dupre-Christol Syndrome |
|
Hyperpigmentation of the skin, Furrowed tongue, Coarse hair, Milia, Nevus, Sparse hair, Trichoepi... |
OMIM:301845 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Micrognathia, Low anterior hairline, Optic atrophy, Protruding ear, Developmental catar... |
OMIM:614219 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Cleft upper lip, Abnormality of hair texture, Palmoplantar keratod... |
ORPHA:34217 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Short stature, Thick hair, Micrognathia, Primary amenorrhea, Growth delay,... |
OMIM:617675 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchymosis, Int... |
ORPHA:96253 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Optic atrophy, Fine hair, Protruding ea... |
OMIM:617988 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Short stature, Abnormality of the anterior pit... |
ORPHA:75389 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Ope... |
ORPHA:61 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Hypogonadotropic hypogonad... |
OMIM:612079 |
Fried Syndrome |
|
Macrotia, Hearing impairment |
ORPHA:85335 |
Ctcf-Related Neurodevelopmental Disorder |
|
Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set... |
ORPHA:363611 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Macrotia, Cupped ear |
OMIM:300659 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Tooth agen... |
OMIM:605676 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Oligodontia, Short eyelashes, Sparse bod... |
OMIM:608615 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Short sta... |
OMIM:608154 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Re... |
ORPHA:137596 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Gro... |
OMIM:613561 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Brittle hair, Micrognathia, Sparse eyebrow, Developmental cataract,... |
OMIM:618810 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Macrotia |
OMIM:616269 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Generalized hirsutism, Brow ptosis, E... |
OMIM:605130 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Atelis Syndrome 1 |
|
Cataract, Carious teeth, Thrombocytopenia, Bronchiectasis, Dry skin, Leukopenia, Microtia, High p... |
OMIM:620184 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Short stature, Nevus, Micrognathia, Erythroid hypoplasia, Synophrys, Widow's p... |
OMIM:620072 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Abnormal pinn... |
ORPHA:1231 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Micrognathia, Abno... |
ORPHA:808 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Abnormal eyelid morphology, Micrognathia, Orofacial cleft, Webbed neck, High p... |
ORPHA:2990 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Abnormal oral mucosa morphology, Paronychia, Abnormality of the nail, Alope... |
ORPHA:79404 |
Noonan Syndrome 9 |
|
Curly hair, Short stature, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchidism, Webbed... |
OMIM:616559 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Large for gestational age, Cryptorchidism, Asthma, Hypopigmented skin patches, Wide m... |
ORPHA:457485 |
Monosomy 18P |
|
Epicanthus, Alopecia, Short stature, Micrognathia, Carious teeth, Cleft palate, Low posterior hai... |
ORPHA:1598 |
Hurler-Scheie Syndrome |
|
Short stature, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Rhinitis, Hernia,... |
ORPHA:93476 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth... |
OMIM:616364 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Preauricular pit, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Short stature... |
OMIM:170390 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Naevus flammeus of the eyelid, Dow... |
ORPHA:3107 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal oral ... |
ORPHA:289 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth... |
OMIM:601358 |
Cranioectodermal Dysplasia 1 |
|
Epicanthus, Telecanthus, Slow-growing hair, Short nail, Inguinal hernia, Thin nail, Rhizomelia, H... |
OMIM:218330 |
Schwartz-Jampel Syndrome |
|
Apnea, Micrognathia, Low anterior hairline, Microcornea, High palate, Decreased body weight, Wris... |
ORPHA:800 |
2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, High palate, Facial palsy, Sparse eyebrow, Low-set ears, Narrow mouth, Retrognath... |
ORPHA:261349 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Uplifted earlobe, High anterior hairline, Macrotia, Hearing impairment |
ORPHA:487825 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Hypopigmentation... |
ORPHA:177910 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Inguinal hernia, Short stature, Micrognathia, Synophrys, Sensorineural hearing impair... |
ORPHA:536545 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Preauricular pit, Short statur... |
OMIM:613792 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Telecanthus, Partial albinism, Camptodactyly of finger, Synophrys, Sensori... |
OMIM:148820 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Macrotia, Low-set ears |
ORPHA:3433 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait |
OMIM:615376 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar... |
OMIM:613451 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Cryptorchidism, Low ... |
OMIM:619244 |
Ulerythema Ophryogenesis |
|
Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyperkeratosis, Hyperk... |
ORPHA:3406 |
W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of t... |
ORPHA:2804 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... |
ORPHA:1433 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauter... |
OMIM:616353 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip a... |
ORPHA:1473 |
Joubert Syndrome 37 |
|
Posteriorly rotated ears, Short stature, Cryptorchidism, Obesity, High palate, Low-set ears, Spar... |
OMIM:619185 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Peripheral axonal neuropathy, Corneal opacity, Micrognathia, Optic atrophy... |
OMIM:617183 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Micrognathia, Microcornea, High palate, Microd... |
ORPHA:536467 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Abnormality of the gingiva, Leukocytosis, Thrombocytopenia, Weight loss, P... |
ORPHA:517 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ... |
ORPHA:2273 |
Noonan Syndrome 2 |
|
Curly hair, Epicanthus, Posteriorly rotated ears, Short stature, Micrognathia, Sparse eyebrow, Cr... |
OMIM:605275 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Abnormality of the... |
OMIM:612394 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Epidermoid cyst, Decreased response to growth hormone stimulation test, Small for ges... |
OMIM:614114 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital diaphragmatic hernia, Oligodontia... |
OMIM:305600 |
Usher Syndrome Type 1 |
|
Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m... |
ORPHA:231169 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Skin tags, Tented upper lip vermilion, Dental crowding, High palate, Ocular anterior segment dysg... |
OMIM:612582 |
15Q13.3 Microdeletion Syndrome |
|
Macrotia, Protruding ear |
ORPHA:199318 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Eosinophilia, Rhinorrhea, Erythematous oral mucosa, Recurrent pneu... |
OMIM:158310 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Short stature, Wide mouth, Hyperkeratosis, Webbed neck, Failure to thrive |
OMIM:615279 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Macrotia |
OMIM:300934 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Allergic rhinitis, Asthma, Facial erythema, Conjunctivitis, Pallor, Dry skin |
OMIM:603165 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Nevus, Carious teeth, Skin erosion, Corneal erosion, Flexion contracture, Dela... |
ORPHA:89842 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Failure to thrive in infancy, Short stature, Highly arched eyebrow, Micr... |
ORPHA:783 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology... |
ORPHA:2916 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Anteverted ears, Upslanted palpebral fissure, Narrow palpebral fissure, Sp... |
OMIM:618087 |
Anauxetic Dysplasia 2 |
|
Short stature, Flexion contracture, Macroglossia, Hypodontia, Small nail, Nail dysplasia, Sparse ... |
OMIM:617396 |
Moebius Syndrome |
|
Epicanthus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Hearing impairment, ... |
ORPHA:570 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Short ... |
OMIM:601853 |
Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cataract, Abnormal dental morphology, Abnormal dental enam... |
ORPHA:1458 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Hyperaldosteronism, ... |
ORPHA:199343 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Epicanthus, Short stature, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, O... |
OMIM:614800 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Sparse hair, Decreased adipose tissue around neck, Absence of su... |
OMIM:606721 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units,... |
OMIM:601345 |
Piebaldism |
|
Macule, Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Multiple joint contractures, Parakeratosis, Palmoplantar hyperkeratosis, Palm... |
ORPHA:100976 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Macrotia, Protruding ear |
OMIM:251240 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, High palat... |
OMIM:211380 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Abnormal eyelid morphology, ... |
ORPHA:2556 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth... |
ORPHA:93399 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d... |
OMIM:619016 |
Trisomy 20P |
|
Micrognathia, Low anterior hairline, Protruding ear, Downturned corners of mouth, Coarse hair, Sh... |
ORPHA:261318 |
Chops Syndrome |
|
Curly hair, Chronic lung disease, Cataract, Short stature, Thick hair, Tracheomalacia, Cryptorchi... |
OMIM:616368 |
Rapadilino Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, High, narrow palate, Cleft pa... |
OMIM:266280 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Downturne... |
OMIM:616268 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Abnormality of skin pigmentation,... |
ORPHA:743 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, Cerebellar dysplasia |
OMIM:250951 |
Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Severe short stature, Short stature, Corneal opacity, Postnatal growth retardation, S... |
OMIM:253220 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Short philtrum,... |
OMIM:619475 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Developmental And Epileptic Encephalopathy 100 |
|
Delayed CNS myelination, Tented upper lip vermilion, Micrognathia, Protruding tongue, Synophrys, ... |
OMIM:619777 |
Carvajal Syndrome |
|
Woolly hair, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Cataract, Short stature, Pseudohypoparathyroidism, Obesity, Hypogonadi... |
OMIM:612462 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Short stature, Corneal opacity, Cleft palate |
ORPHA:577 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:277580 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Leukocytosis, Growth delay, Nail dystrophy, Thin skin, Failure to thrive, Anemia, P... |
OMIM:615895 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Degcags Syndrome |
|
Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, Abnormality of skin pi... |
OMIM:619488 |
3Mc Syndrome 3 |
|
Sacral dimple, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Cleft upper lip, ... |
OMIM:248340 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Pallor, Hyperplasia of the maxilla,... |
ORPHA:231226 |
Hurler Syndrome |
|
Inguinal hernia, Short stature, Corneal opacity, Bilateral ptosis, Splenomegaly, Flexion contract... |
OMIM:607014 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Severe short stature, Redundant skin, Growth delay, Microcornea, Thin skin... |
ORPHA:2078 |
Chung-Jansen Syndrome |
|
Large earlobe, Synophrys, Macrotia, Thick eyebrow |
OMIM:617991 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Optic atrophy, Downturned corners o... |
ORPHA:1185 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Delayed CNS myelination, Short stature, Ankle flexion contracture, Coarse hair, Sparse hair |
OMIM:619985 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Delayed CNS myelination, Small for gestational age, Micrognathia, Keratitis, Corneal erosion, Sho... |
ORPHA:453510 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Cataract, Short stature, Pseudohypoparathyroidism, Obesity, Hypogonadi... |
OMIM:103580 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Posteriorly rotated ears, Small for gestational age, Highly arched eyebrow, Micrognat... |
OMIM:614541 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microcytic anemia, Optic atrophy, Dry skin, Cutis laxa, Abnormality of skin pigmentatio... |
OMIM:612379 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
Hurler-Scheie Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Corneal opacity, Micrognathia, Contractu... |
OMIM:607015 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Sev... |
OMIM:601706 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Cryptorchidism, Blue irides, Obesity, Red hair, Malar flattening, Fair hai... |
OMIM:614613 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Everted lower lip verm... |
OMIM:242300 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Abnormality of skin pigmentation, Thin skin, ... |
ORPHA:745 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Short stature, Aplastic anemia, Reticulated skin pigmentation, Cryptorchi... |
OMIM:613990 |
Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Orofacial cleft, Postauricular pit, Premature graying of hair, Microcornea, High p... |
ORPHA:1297 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop... |
ORPHA:496790 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Delayed CNS myelination, Synophrys, Gingival overgrowth, Fine hair, Growth delay, Long philtrum, ... |
OMIM:619428 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth... |
ORPHA:93400 |
Heimler Syndrome 2 |
|
Dental crowding, Sensorineural hearing impairment, Leukonychia, Beau's lines, Amelogenesis imperf... |
OMIM:616617 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Epicanthus, Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Mi... |
ORPHA:1901 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Keratoconus, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia... |
ORPHA:3342 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, ... |
OMIM:619718 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Presenile cataracts, Thin skin |
OMIM:112250 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Small earlobe, Highly... |
OMIM:608156 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Inguinal hernia, Hiatus hernia, Pretibial hyperpigmentation, Atr... |
OMIM:130080 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Nail pits, Reti... |
OMIM:127550 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Aplasia/Hypoplasia of the skin, Short stature, La... |
ORPHA:902 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Hooded eyelid, Anterior pituitary hypoplasia, Uplif... |
OMIM:619841 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, High palate, Short philtrum, Sparse hair, Microdontia, Abnormality... |
ORPHA:251028 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Orbital cyst, Cleft palate, Eyelid col... |
OMIM:164180 |
Barber-Say Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair... |
OMIM:209885 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Nance-Horan Syndrome |
|
Diastema, Developmental cataract, Microcornea, Screwdriver-shaped incisors, Mulberry molar, Poste... |
OMIM:302350 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Pallor, Hyperplasia of the maxilla, Hypoparathyro... |
ORPHA:231214 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Ell... |
ORPHA:86818 |
Stimmler Syndrome |
|
Microdontia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology |
ORPHA:3199 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Zellweger Syndrome |
|
Epicanthus, Posterior embryotoxon, Short stature, Corneal opacity, Cataract, Micrognathia, Extern... |
ORPHA:912 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Posteriorly rotated ears, Abnorma... |
OMIM:617694 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, Ab... |
ORPHA:2750 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Corneal ero... |
ORPHA:79408 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Cerebellar hypoplasia, Cerebellar ... |
OMIM:613155 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Epicanthus, Short stature, Micrognathia, Almond-shaped palpebral fissure, Wide mouth,... |
OMIM:300986 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Segmental peripheral demyelination/remyelination, Unsteady gait, Axonal loss, Gait disturbance, O... |
OMIM:601455 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Oral mucosal blisters, Nail dystrophy, Aplasia cutis congenita, Pterygium, Enamel hypoplasia, Ect... |
ORPHA:79403 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Charlie M Syndrome |
|
Abnormal toenail morphology, Macrotia, Abnormal fingernail morphology |
ORPHA:1406 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Erythema, Leukonychia, Tooth agenesis, Hyperkeratosis, Palmoplantar keratoderma, N... |
OMIM:615821 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hypogonadotropic hypogonadism... |
ORPHA:3068 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Macrotia, Frontal upsweep of hair, Apnea |
OMIM:619797 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Inguinal hernia, Failure to thrive, Short stature, Camptodactyly of finger... |
ORPHA:354 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:600223 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Sensorineural hearing impairment, Corneal ulceration, Corneal scarring |
OMIM:616488 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Corneal opacity, Abnormal dental enamel morphology, Premature los... |
ORPHA:2908 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermili... |
ORPHA:438216 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Skin tags, Conical tooth, Micrognathia, Synophrys, Supernumerary tooth, Sensorineural hearing imp... |
ORPHA:90024 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
Marshall Syndrome |
|
Cataract, Sparse eyelashes, Short stature, Micrognathia, Hypoplasia of the maxilla, Sparse eyebro... |
ORPHA:560 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
Cenani-Lenz Syndrome |
|
Ptosis, Cataract, Abnormal dental enamel morphology, Hearing impairment, High, narrow palate, Pro... |
ORPHA:3258 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Inguinal hernia, Epicanthus, Dental crowding, Recurrent pneumonia, Respiratory insuf... |
OMIM:225400 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Short stature, Secondary amenorrhea, Polycystic ovaries, Pigmenta... |
OMIM:268020 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Allan-Herndon-Dudley Syndrome |
|
Prominent antihelix, Macrotia, Stahl ear, Underfolded superior helices |
OMIM:300523 |
Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
Otofaciocervical Syndrome |
|
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... |
ORPHA:2792 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onyc... |
ORPHA:2309 |
Terminal Osseous Dysplasia |
|
Epicanthus, Telecanthus, Multiple joint contractures, Camptodactyly of finger, Accessory oral fre... |
OMIM:300244 |
Infantile Sialic Acid Storage Disease |
|
Epicanthus, Failure to thrive, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High pa... |
OMIM:269920 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Failure to thrive, Short s... |
ORPHA:100 |
Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Peripheral dysmyelina... |
OMIM:260565 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Optic atrophy, Peripheral demyelination, Ataxia |
OMIM:609033 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Respiratory insufficiency due to muscle weakness, Macrotia |
OMIM:608930 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thrombocytopenia, ... |
ORPHA:507 |
Familial Cervical Artery Dissection |
|
Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
Prolactinoma |
|
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p... |
ORPHA:2965 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the dentition, Abnormality of hair texture, Delayed myelination, CNS hypomyelinati... |
ORPHA:88618 |
Warburg Micro Syndrome 3 |
|
Cataract, Micrognathia, Postnatal growth retardation, Flexion contracture, Low anterior hairline,... |
OMIM:614222 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Short stature, T... |
ORPHA:3322 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Severe short stature, Camptodactyly of finger, Abnormal eyelas... |
ORPHA:1425 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Failure to thrive, Short stature, Highly arched eyebrow, Cl... |
OMIM:243310 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Epicanthus, Hypopigmentation of hair, Delayed CNS myelination, Short stature, Splenomegaly, Growt... |
OMIM:618541 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Epicanthus, Telecanthus, Delayed CNS myelination, Thrombocytopenia, Synophr... |
OMIM:617303 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71526 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Stapes ankylosis, Short stature, Highly arched eyebrow... |
OMIM:614701 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Large fleshy ears, Synophrys, Abnormal pinna morphology, Horizontal eyebrow |
ORPHA:352530 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash... |
OMIM:614941 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Ankyloblepharon, B... |
OMIM:619339 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Thin skin, Hernia, Umbilical hernia |
ORPHA:75497 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Splenomegaly, Grow... |
OMIM:615631 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... |
OMIM:615485 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Short stature, Poliosis, Abnormal eyela... |
ORPHA:3437 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Atrophy of the spinal cord, Motor axonal neuropathy, Gait ataxia |
ORPHA:139480 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Sinusitis, Short stature, Apnea, Corneal opacity, Splenomegaly, Sensorineural he... |
ORPHA:579 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Epicanthus, Abnormal dental morphology, Abnormal oral muc... |
ORPHA:2136 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal dental enamel... |
ORPHA:439822 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Short stature, Hearing impairment, Hypoplasia of the maxilla, Abnormal... |
OMIM:614261 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Abnormality of the dentition, Sensorineural hearing impairment, Corneal erosio... |
ORPHA:90354 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hearing impairment, Synophrys... |
ORPHA:3440 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... |
OMIM:618268 |
Weaver Syndrome |
|
Mandibular prognathia, Deep-set nails, Epicanthus, Inguinal hernia, Delayed CNS myelination, Thin... |
OMIM:277590 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Micrognathia, Short stature, Gingival overgrowth, Gingival hyperkeratosis, Thick ... |
OMIM:225410 |
X-Linked Agammaglobulinemia |
|
Alopecia, Sinusitis, Short stature, Thrombocytopenia, Sensorineural hearing impairment, Recurrent... |
ORPHA:47 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Exaggerated cupid's bow, Camptodactyly of finger, Hearing impairment, Micro... |
ORPHA:284160 |
Rafiq Syndrome |
|
Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Low-set ears, Macrotia, Broad eyebrow, Spar... |
OMIM:614202 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Peters ano... |
OMIM:261540 |
Lateral Meningocele Syndrome |
|
Telecanthus, Inguinal hernia, Dental crowding, Posteriorly rotated ears, Short stature, Micrognat... |
OMIM:130720 |
Lessel-Kubisch Syndrome |
|
Short stature, Sparse pubic hair, Premature graying of hair, Hypogonadism, Narrow mouth |
OMIM:618681 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Cheilit... |
ORPHA:1334 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Sensorineural hearing impairment, Thin eyebrow, Round ea... |
ORPHA:3242 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn... |
OMIM:619950 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
Wieacker-Wolff Syndrome |
|
U-Shaped upper lip vermilion, Neonatal respiratory distress, Short stature, Facial palsy, Apnea, ... |
OMIM:314580 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro... |
OMIM:618644 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Conductive hearing impairment, Aspiration, Short stat... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Conductive hearing impairment, Aspiration, Short stat... |
ORPHA:353277 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Thromboc... |
ORPHA:75564 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, I... |
ORPHA:370022 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Sparse eyebrow, Macrotia, Thick eyebrow |
OMIM:617268 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Micrognathia, Sparse eyebrow, Cafe-au-lait spot, Thick vermilion... |
OMIM:250410 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Short stature, Highly arched eyebrow, Low-set ears, Lo... |
OMIM:300867 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Macrocephaly/Autism Syndrome |
|
Epicanthus, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hydrocele testis, Coars... |
OMIM:605309 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Na... |
ORPHA:457365 |
Chand Syndrome |
|
Curly hair, Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Dry skin, Abnormal oral f... |
ORPHA:1401 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Dermotrichic Syndrome |
|
Macrotia, Nail dystrophy, Hyperconvex toenail |
ORPHA:99688 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Short lingual frenulum, Short stature, Short uvula, Cleft palate, Fine hair, Agenesis... |
OMIM:614091 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Selective tooth agenesis, Lack of facial subcutaneous fat, Micrognat... |
ORPHA:2959 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth, Fragile nails |
OMIM:161000 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Multiple joint contractures, Dental crowding, Micrognathia, Sparse hair, Simple ear, S... |
OMIM:305450 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Ast... |
ORPHA:634 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters |
OMIM:132000 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination |
OMIM:616287 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Abnormal pinna morphology, Rhizomelia, Sparse eyebrow, Postnatal grow... |
OMIM:302960 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s... |
ORPHA:411511 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename... |
ORPHA:1452 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Peripheral opacification of the cornea, Short stature... |
OMIM:259600 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Hearing impairment, Postnatal growth retardation, Cryptorchidism, Neonatal asphyxia, Cleft palate... |
ORPHA:2728 |
Cednik Syndrome |
|
Sensorineural hearing impairment, Macrotia |
ORPHA:66631 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Dental crowding, Corneal opacity, Micrognathia, Obesity, Impaire... |
OMIM:612469 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Cataract, Osteoma cutis, Decreased response to growth hormone stimulat... |
ORPHA:79444 |
Qazi-Markouizos Syndrome |
|
Cryptorchidism, High, narrow palate, Hypoplasia of teeth, Small nail, Open mouth, Broad philtrum |
ORPHA:3010 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Sparse hair, Intrauterine growth retardation, Bifid uvula, Short stature, Increased... |
OMIM:222470 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Recurrent otitis media, Synophrys, Macrotia |
ORPHA:589905 |
Marshall Syndrome |
|
Epicanthus, Cataract, Short stature, Malar flattening, Micrognathia, Absent frontal sinuses, Lens... |
OMIM:154780 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613265 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou... |
ORPHA:955 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Short stature, Abnormality of hair texture, Megaloblastic anemia, Delayed myelin... |
ORPHA:79351 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Delayed myelination, Obesity,... |
ORPHA:98794 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigm... |
OMIM:614072 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Male infertilit... |
OMIM:163950 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Pancreatic endocrin... |
ORPHA:99889 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
3M Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Decreased fertility,... |
ORPHA:2616 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... |
OMIM:604536 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal pituitary gland morphology, CNS hypomyelination, Diffuse axonal swelling, ... |
ORPHA:643 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryptorchidism, Sensor... |
OMIM:614230 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Abnormal hair morphology, Plantar pits, Abnormality... |
ORPHA:218 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Steppage gait, Onion bulb formation |
OMIM:614455 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely ... |
OMIM:280000 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Nail dystrophy, Dermal atrophy, Ab... |
ORPHA:89843 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebro... |
ORPHA:897 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Brittle hair, Dental crowding, Ectopia lentis, High palate, Lens subluxation, Fa... |
OMIM:236200 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Advanced eruption of teeth, Iris col... |
ORPHA:818 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... |
OMIM:193510 |
Dermatoleukodystrophy |
|
Macrotia |
OMIM:221790 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypogonadotropic hypogona... |
OMIM:603457 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Cough, Sparse hair, Microdontia, Intrauterine growth reta... |
OMIM:620005 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Hearing impairment, Micrognathia, Postnatal growth... |
ORPHA:494344 |
Papillon-Lefèvre Syndrome |
|
Severe periodontitis, Abnormal fingernail morphology, Premature loss of primary teeth, Abnormalit... |
ORPHA:678 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Macrotia |
ORPHA:319332 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Telecanthus, Posteriorly rotated ears, Short stature, Microgn... |
ORPHA:1974 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Cataract, Abnormality of the dentition, Supernumerary tooth, Protruding ea... |
ORPHA:627 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait disturbance |
OMIM:612020 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Abnormality of the dentition, Keratitis, Skin ulcer, Oligodontia,... |
ORPHA:1657 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Sensorineural hearing impai... |
ORPHA:53271 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Epicanthus, Brittle hair, Dry hair, Short stature, Cupped ear, Protruding ear, Upslanted palpebra... |
ORPHA:93947 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Cataract, Cleft upper lip, Corneal erosion, Cleft palate, Conjunctivitis, Webbed neck, Di... |
ORPHA:33001 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hypoplastic toenails, Hearing ... |
ORPHA:1580 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... |
OMIM:619208 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Primary amenorrhea, Steppag... |
ORPHA:168563 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Abnormal dental morphology, Camptodactyly of finger, Abnormal ... |
ORPHA:1716 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Cataract, Osteoma cutis, Decreased response to growth hormone stimulat... |
ORPHA:79443 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Neonatal... |
OMIM:609638 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Degeneration of the lateral corti... |
OMIM:604360 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Short stature, Sensorineural hearing impairment, Palmoplantar keratoderma,... |
OMIM:242150 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Optic atrophy, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Short stature, Cryptorchidism, Narrow palate, Wide mouth, High palate, Short philtrum... |
OMIM:619435 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Short stature, Supernumerary tooth, Obesity, Microtia, Low-set... |
ORPHA:96149 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Abnormal hair pattern, Cleft upper ... |
ORPHA:1394 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Cataract, Short stature, Cryptorchidism, Sensorineural he... |
OMIM:600373 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Abnormal fingernail morphology... |
ORPHA:2036 |
Mucopolysaccharidosis, Type Iiic |
|
Hearing impairment, Splenomegaly, Synophrys, Coarse hair, Everted lower lip vermilion, Hernia, Hi... |
OMIM:252930 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Hypopigmentat... |
OMIM:176270 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, H... |
OMIM:601803 |
Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Short stature, Carious teeth, Cryptorchidism, Widow's peak, Intrauterine growth... |
OMIM:101805 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Increased T cell count, Growth delay, Nail dystrophy, Recurrent sinusitis, Increas... |
ORPHA:98813 |
Prolidase Deficiency |
|
Petechiae, Micrognathia, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Skin ulcer,... |
OMIM:170100 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Chand Syndrome |
|
Curly hair, Commissural lip pit, Nail dysplasia, Ankyloblepharon |
OMIM:214350 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Micrognathia, Downturned corners of mouth, Conductive hearing impairment, Severe sensorineural he... |
OMIM:620186 |
Fg Syndrome 3 |
|
Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair... |
OMIM:300406 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Low anterior hairline, Respiratory insufficiency, Corneal opacity |
OMIM:613153 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... |
OMIM:615490 |
Noonan Syndrome |
|
Abnormal hair quantity, Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Short s... |
ORPHA:648 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Epicanthus, Thick eyebrow, Tented upper lip vermilion, Decreased response ... |
ORPHA:488632 |
Diencephalic Syndrome |
|
Macrotia |
ORPHA:1672 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morp... |
ORPHA:2323 |
Hurler Syndrome |
|
Short stature, Camptodactyly of finger, Corneal opacity, Splenomegaly, Abnormality of skin pigmen... |
ORPHA:93473 |
Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Low-set ears, Macrotia |
OMIM:615009 |
Kindler Syndrome |
|
Ridged nail, Symblepharon, Carious teeth, Corneal erosion, Spotty hypopigmentation, Gingivitis, P... |
OMIM:173650 |
Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Downturned corners of mouth, Microcornea, Widely spaced t... |
OMIM:619539 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macrotia, Bilateral sensorineural hearing impairment |
OMIM:300238 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Sparse eyelashes, Sparse eyebrow, Abnormal tragus morphology, ... |
ORPHA:66625 |
Borjeson-Forssman-Lehmann Syndrome |
|
Macrotia |
OMIM:301900 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Cutis laxa, Sparse hair, Intrauterine growth retardation, ... |
OMIM:309400 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Prominent crus of helix, Macrotia, Abnormality of superior crus of antihelix |
OMIM:301013 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Short stature, Apnea, Micrognathia... |
ORPHA:85201 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Telecanthus, Split nail, Short stature, Congenital diaphragmatic hernia,... |
OMIM:304110 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Abnormal hair pattern, Highly arched eyebrow, Overfolded helix, Macrotia |
ORPHA:2083 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Short stature, Hyperconvex nail, Long philtrum, Sparse hair, Failure to th... |
OMIM:619721 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Fair hair, Albinism, Periodontitis, Neutropenia, Hepatosplenomega... |
OMIM:608233 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Optic atrophy, Pallor |
OMIM:609021 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cere... |
OMIM:615181 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... |
OMIM:614602 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Branchiooculofacial Syndrome |
|
Micrognathia, Postauricular pit, Premature graying of hair, Conductive hearing impairment, Sparse... |
OMIM:113620 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Epicanthus, Delayed CNS myelination, Exaggerated cupid's bow, Open mouth, ... |
OMIM:300896 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Palm... |
OMIM:618373 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Dyspnea, ... |
ORPHA:2636 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Slow-growing hair, Short stature, Highly arched eyebrow, High, narrow palate, Low an... |
OMIM:272950 |
Histidinuria Due To A Renal Tubular Defect |
|
Hypoplastic toenails, Sensorineural hearing impairment, Macrotia |
OMIM:235830 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Shyness, Thin skin, Impaired social interactions, Macrotia |
ORPHA:449291 |
Pontocerebellar Hypoplasia, Type 3 |
|
Macrotia, Low-set ears, Hearing impairment |
OMIM:608027 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Allergic rhinitis, Sparse eye... |
OMIM:256500 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Dental crowding, Downturned corners of mouth, Periorbital hyperpigmentation, Short stature, Micro... |
ORPHA:261323 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Thrombocytopen... |
OMIM:224230 |
Faciocardiomelic Syndrome |
|
Ptosis, Telecanthus, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Sh... |
OMIM:612731 |
Marshall-Smith Syndrome |
|
Irregular dentition, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Glossoptosis, Shor... |
OMIM:602535 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, Long palpebral fissure, Open mouth, Dry skin, Aplasia... |
OMIM:600906 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Nevus psiloliparus, Hypoplasia ... |
OMIM:613001 |
Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine grow... |
OMIM:268130 |
Pierpont Syndrome |
|
Large fleshy ears, High anterior hairline, Posteriorly rotated ears, Hearing impairment |
OMIM:602342 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Mehmo Syndrome |
|
Macrotia |
OMIM:300148 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp... |
ORPHA:157954 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Abnormal nasolacrimal system morphology, Lipodystrophy, Corn... |
ORPHA:2396 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eye... |
OMIM:300166 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Thickened helices, Toenail dysplasia,... |
OMIM:300966 |
Corneodermatoosseous Syndrome |
|
Severe short stature, Abnormal fingernail morphology, Abnormal dental enamel morphology, Corneal ... |
ORPHA:3194 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facia... |
OMIM:308800 |
Fetal Encasement Syndrome |
|
Omphalocele, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Posteriorly rotated ears, Low-set ears, Hypoplastic fifth toenail, Recurrent o... |
OMIM:618027 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Blue nevus, Absent skin pigmentation, Blue irides, Red... |
ORPHA:79433 |
Dubowitz Syndrome |
|
Aplastic anemia, Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Megalocornea,... |
OMIM:223370 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Abnormality of the dentition, Bilateral ptosis, Abnorm... |
OMIM:620040 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Moderate p... |
OMIM:118650 |
H Syndrome |
|
Microcytic anemia, Corneal arcus, Hernia, Alopecia, Psoriasiform dermatitis, Short stature, Cleft... |
ORPHA:168569 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Failure to thrive, Cataract, Small for gestational age, Short stature, Scleroc... |
OMIM:619869 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Cataract, Short stature, Decreased response to growth hormone stimulat... |
ORPHA:94089 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Aplasia/Hypoplasia of t... |
ORPHA:1968 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... |
OMIM:110100 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoplastic toenails, Sensorineural hearing impairment, Macrotia |
ORPHA:2158 |
Fryns Microphthalmia Syndrome |
|
Macrotia, Abnormality of the ear |
OMIM:600776 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop... |
OMIM:305000 |
Temple-Baraitser Syndrome |
|
Hypoplastic thumbnail, Absent nail of hallux, Low anterior hairline, Aplastic/hypoplastic toenail... |
ORPHA:420561 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia, Conjunctival whitish salt-like deposits |
OMIM:211900 |
Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downtur... |
ORPHA:79500 |
Kbg Syndrome |
|
Abnormal hair pattern, Synophrys, Bilateral conductive hearing impairment, Macrotia, Thick eyebrow |
ORPHA:2332 |
Achalasia-Microcephaly Syndrome |
|
Macrotia |
ORPHA:929 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Obesity, Abnormality of skin pigmentati... |
ORPHA:2180 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Sparse hair, Short stature, Cry... |
OMIM:139210 |
Vici Syndrome |
|
Micrognathia, Albinism, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Hypopigmentation... |
OMIM:242840 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Splenomegaly, Dyspnea, Pallor, Anemia |
ORPHA:75563 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98795 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Micrognathia, Sparse e... |
ORPHA:495875 |
Sheehan Syndrome |
|
Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating prolactin concent... |
ORPHA:91355 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Numerous nevi, Dental crowding, Downturned corners of mouth, High palate, ... |
OMIM:618371 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Flexion contracture, Coarse hair, Aspiration pneumonia, Thickened helices, Conductive ... |
ORPHA:581 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Macrotia, Sparse lateral eyebrow |
OMIM:619694 |
Costello Syndrome |
|
Redundant neck skin, Micrognathia, High palate, Sparse hair, Deep-set nails, Short stature, Thin ... |
OMIM:218040 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Short stature, Abnormal hair patter... |
ORPHA:2315 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Cataract, Short stature, Cryptorchidism, Sensorineural hearing impairment, Trunc... |
OMIM:616541 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... |
ORPHA:2752 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Synophrys, Low anterior... |
OMIM:612289 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deaf... |
ORPHA:1010 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentiti... |
ORPHA:432 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Epicanthus, Aplasia of the thymus, Synophrys, Schwannoma, Hypo... |
ORPHA:96123 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Thin nail, Short s... |
OMIM:617799 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Severe demyelination of the white matter, Pulmonary embolism, Megaloblastic... |
ORPHA:79282 |
Neurofibromatosis Type 1 |
|
Abnormal eyelid morphology, Subcutaneous nodule, Multiple lipomas, Pheochromocytoma, Heterochromi... |
ORPHA:636 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Posteriorly rotated ears, Wide mouth, Astigmatism, High palate, Joint contracture of ... |
OMIM:619934 |
Holoprosencephaly 5 |
|
Synophrys, Macrotia |
OMIM:609637 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Brittle hair, Micrognathia, Protruding ear, High palate, Short philtrum, S... |
OMIM:309500 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph... |
ORPHA:444077 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Growth delay, Secondary hyperparathyroidism, Enamel hypoplasia, Failur... |
OMIM:264700 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Failure to thrive, Palpebral edema, Apnea, Cataract, Micrognathia, Brushfield spots, ... |
OMIM:214110 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Dental crowding, High palate, Sparse hair, Frontal hirsutism, Delayed CNS my... |
OMIM:617157 |
Duane Retraction Syndrome |
|
Central heterochromia, Micrognathia, Abnormal pupil morphology, Microcornea, Aniridia, Iris colob... |
ORPHA:233 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Macrotia, Low-set ears |
ORPHA:436245 |
Tufted Angioma |
|
Thrombocytopenia, Localized skin lesion, Hypertrichosis, Anemia, Hemangioma of the lip, Petechiae... |
ORPHA:1063 |
Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Low-set ears, Mac... |
ORPHA:397941 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... |
OMIM:250250 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hypoplasia of the iris, Nail dysplasia, Thrombocytopenia, Amelogenes... |
OMIM:612783 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis |
OMIM:618546 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrotia |
OMIM:300886 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspir... |
OMIM:618253 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl... |
ORPHA:99843 |
Shukla-Vernon Syndrome |
|
Sparse hair, Downslanted palpebral fissures |
OMIM:301029 |
Hatipoglu Immunodeficiency Syndrome |
|
Inguinal hernia, Failure to thrive, Pancytopenia, Proportionate short stature, Hyperpigmented/hyp... |
OMIM:620331 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Subcutaneous nodule, Abnormality of skin pigmentation,... |
ORPHA:744 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, High palate, Short p... |
OMIM:618332 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
Martsolf Syndrome 2 |
|
Macrotia |
OMIM:619420 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Micrognathia, Low anterior hairline, Short stature, Neonatal asphyxia, Respiratory insufficiency,... |
OMIM:608779 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Micrognathia, Sparse hair, Megalocornea, Progressive alveolar ridge hypertropy, Hyp... |
OMIM:252500 |
Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Keratoconus, Iris hypopigmentation, Cerebral dysmyelina... |
ORPHA:72 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Lack of skin elasticity, Growth delay, Hypopigmentation of th... |
ORPHA:79254 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Microdonti... |
OMIM:135900 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Macrotia, Protruding ear |
OMIM:617481 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ... |
OMIM:620107 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Peripheral axonal neuropathy, Small for gestational age, Short stature, Hearing impai... |
OMIM:300661 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin... |
ORPHA:231178 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae |
OMIM:225310 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Delayed CNS myelination, Brittle hair, Small for gestational age, Failure to thrive in infancy, S... |
OMIM:618891 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair, Obtuse angle of mandible, Micrognathia, High palate, Malar flattening, Downslanted pa... |
ORPHA:85184 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Macrotia, Long eyebrows |
OMIM:614407 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Sparse scalp hair, Telecanthus, Severe short stature, Small for gestational ag... |
OMIM:615789 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Lens luxation, Ectopia lentis, Growth delay, Axonal loss, Thick vermilion border, Long philtrum, ... |
OMIM:252160 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Abnormal pinna morphology, Highly arched eyebrow, Protruding ear, Long eyelashes, Low-set ears, M... |
OMIM:617452 |
Wrinkly Skin Syndrome |
|
Excessive skin wrinkling on dorsum of hands and fingers, High palate, Sparse hair, Emphysema, Sho... |
ORPHA:2834 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Microcornea, High palate, Conductive hearing impairment,... |
OMIM:201000 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Synophrys, Downturned corners... |
ORPHA:1299 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Delayed myelination, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, White hair, Ble... |
ORPHA:896 |
Distal Deletion 6P |
|
Epicanthus, Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, O... |
ORPHA:96125 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Conjunctivitis, Microdontia, Corneal perforation, Hypop... |
OMIM:149730 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Telecanthus, Epicanthus, Sacral dimple, Short stature, Highly arched eyebrow, M... |
OMIM:619695 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Apnea, Premature loss of primary teeth, Abnormality of hair texture, S... |
ORPHA:667 |
Sialidosis Type 2 |
|
Inguinal hernia, Short stature, Corneal opacity, Dyspnea, Splenomegaly, Flexion contracture, Umbi... |
ORPHA:87876 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Inguinal hernia, Apnea, Abnormality of the dentition, Abnormality of the... |
ORPHA:285 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Short philtrum, Denti... |
ORPHA:71267 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus,... |
OMIM:137940 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy |
OMIM:614116 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, Tachypnea, Low a... |
OMIM:220111 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Hypop... |
ORPHA:999 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Macrotia, Low-set ears |
OMIM:615419 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Posteriorly rotated ears, Small for gestational age, Rhizomelia, Abnormali... |
OMIM:614813 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Macrotia |
ORPHA:66629 |
Restrictive Dermopathy |
|
Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Intrauterine growth retarda... |
ORPHA:1662 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Orofacial cleft, Abnormality of the maxillary sinus, ... |
ORPHA:141099 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Downturned corners of mouth, Short p... |
ORPHA:280 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Loss of eyelashes, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Kosaki Overgrowth Syndrome |
|
Thin upper lip vermilion, Xanthelasma, Thin skin, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea, Bilateral cryptorchidism, Macrodontia of permanent maxillary central incis... |
ORPHA:466722 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Eosinophilia, Asthma, Onycholysis, Nail dystrophy, Scaling skin |
OMIM:270300 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Protruding ear, Long eyelashes, Low-set ... |
ORPHA:329224 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Anteverted ears, Macrotia |
ORPHA:544254 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Periungual erythema, Scaling skin, Neonatal death, Dystrophic fingernails, Absent eyebr... |
OMIM:308205 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Macrotia |
ORPHA:93950 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Inguinal hernia, Short stature, Pneumonia, Corneal opacity, Carious te... |
OMIM:253200 |
Christianson Syndrome |
|
Macrotia, Thick eyebrow |
ORPHA:85278 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,... |
ORPHA:69735 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Inguinal hernia, Thin skin |
OMIM:225320 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Corneal opacity, Thrombocytopenia, ... |
ORPHA:290 |
Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Short stature, Micrognathia, Corneal opacity,... |
ORPHA:96061 |
Developmental And Epileptic Encephalopathy 64 |
|
Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Long eyelashes, Macrotia, Thick eye... |
OMIM:618004 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, D... |
OMIM:614940 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Growth delay, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Pallor,... |
OMIM:615234 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, Downturned corners of mouth, Widely spaced t... |
OMIM:156200 |
Gorlin Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, Cataract, Carious ... |
ORPHA:377 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Pallor |
OMIM:606353 |
Abruzzo-Erickson Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia |
ORPHA:921 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Protruding ear, Widely spaced teeth, Iris ... |
ORPHA:268261 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, High palate, Pallor, Neutropenia, Short stature, Cleft upper lip... |
OMIM:105650 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Smooth philtrum, Posteriorly rotated ears, Short stature, Postnata... |
OMIM:620113 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Cataract, Hearing impairment |
ORPHA:401830 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Optic atrophy, Cerebral dysmyelination, Corneal opacity |
OMIM:252650 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Corneal opacity, Congenital diaphragmatic hernia, Micrognathia |
OMIM:166300 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Macrotia, Low-set ears |
ORPHA:314575 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Schwannoma... |
OMIM:160980 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Sensorineural hearin... |
ORPHA:87 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Epicanthus, Deep philtrum, White forelock, Abnormal palate mor... |
ORPHA:2475 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination, Short stature, Downturned corners of mouth, Wide mouth, Long philtrum, Grow... |
OMIM:617333 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Macrotia, Low-set ears |
OMIM:615433 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Short stature, Micrognathia, Progressive hearing impairment, High pala... |
OMIM:613849 |
Mucopolysaccharidosis, Type Iiid |
|
Inguinal hernia, Short stature, Splenomegaly, Synophrys, Thick lower lip vermilion, Hirsutism, Ac... |
OMIM:252940 |
Metachromatic Leukodystrophy |
|
Gait disturbance, Optic atrophy, Peripheral demyelination, Ataxia |
OMIM:250100 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Decreased response to growth ... |
ORPHA:98754 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism, Hearing impai... |
OMIM:252900 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Low-set ears |
OMIM:619092 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Neu... |
OMIM:609053 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Oral mucosal blisters, Palmoplantar hyperkeratosis, Generalized reticulate brown p... |
ORPHA:158681 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Micrognathia, Asplenia, Cryptorchidism, Cleft palate, U... |
ORPHA:99776 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Delayed CNS myelination, Thick vermilion border, Macrodontia of permanent maxillary central incis... |
OMIM:620114 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Unsteady gait, C... |
ORPHA:99948 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Secondary hyperparathyroi... |
ORPHA:289157 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Macrotia |
ORPHA:1154 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the thymus, Short philtrum, Conductive he... |
ORPHA:567 |
Trigeminal Neuralgia |
|
Cranial nerve compression, CNS demyelination, Difficulty in tongue movements, Mandibular pain, Pe... |
ORPHA:221091 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Cleft palate, Respiratory insufficiency, Cutis laxa, Atrophic scars, Joint contrac... |
OMIM:615349 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Uplifted earlobe, Micrognathia, Synophrys, Low anterior hairline, Microcornea, Microdontia, Short... |
OMIM:616734 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Conjunctivitis, Cough, Neutropenia, Chemosis, Conjunctival hyperemia, Hypop... |
ORPHA:95455 |
Morquio Syndrome C |
|
Severe short stature, Corneal opacity |
OMIM:252300 |
Osteogenesis Imperfecta, Type Ii |
|
Disproportionate short-limb short stature, Small for gestational age, Thin skin, Respiratory insu... |
OMIM:166210 |
Donohue Syndrome |
|
Hypermelanotic macule, Postnatal growth retardation, Adipose tissue loss, Thick lower lip vermili... |
OMIM:246200 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Short stature, Decr... |
ORPHA:1643 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607831 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Lipoatrophy, Short stature |
ORPHA:2301 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Dec... |
ORPHA:177901 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Epicanthus, Epidermal nevus, Supernumerary nipple, Preauricular... |
OMIM:600268 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Obesity, Decreased fertility, Hypogonadism, Sparse body hair, D... |
ORPHA:2234 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormal peripheral myelination, Inability to walk, Atrophy of the spinal cor... |
ORPHA:466768 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail |
OMIM:601319 |
Mucolipidosis Type Ii |
|
Hip contracture, Epicanthus, Dry hair, Inguinal hernia, Short stature, Respiratory failure requir... |
ORPHA:576 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia o... |
OMIM:252100 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Verrucous papule, Hyperkeratosis, Abnormal cornea morphology, Iris c... |
ORPHA:2611 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Frontal balding, Cerebral dysmyelination, Intra-oral hyperpigment... |
ORPHA:139399 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Decreased response to growth ... |
ORPHA:98793 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Conductive hearing impairment, Short stature, Cryptorchidism, Supernumerary toot... |
ORPHA:353281 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Peripheral hypomyelination, C... |
OMIM:612780 |
Ogden Syndrome |
|
Redundant neck skin, Apnea, Redundant skin, Abnormal eyelid morphology, Micrognathia, Deep philtr... |
OMIM:300855 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair, Macrotia, Low-set ears |
OMIM:619603 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Failure to thrive, Unilateral cryptorchidism, Posteriorly rotated ears, Cleft uppe... |
OMIM:206920 |
Fucosidosis |
|
Lipoatrophy, Corneal opacity, Abnormality of the dentition, Failure to thrive, Generalized hyperk... |
ORPHA:349 |
Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Cataract, Aplastic/hypoplastic toenail, Pulmonary arter... |
ORPHA:974 |
Lissencephaly 6 With Microcephaly |
|
Synophrys, Macrotia |
OMIM:616212 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low anterior hairline, Frontal upsweep of hair, Horizontal eyebrow, Low-set ears, Macrotia, Heari... |
ORPHA:369891 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Protruding ear, Hyperconvex fingernails, Coarse hair, High palate, Widely ... |
OMIM:303600 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Highly arched eyebrow, Macrotia, Low-set ears |
OMIM:618142 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Redundant skin, High, narrow palate, Hyperconvex fingernails, Bifid uvula,... |
ORPHA:2658 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Hypopigmentation of hair, Small for gestational age, Decreased response to growth ... |
ORPHA:177904 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Short stature, Abnormality of the dentition, C... |
ORPHA:158668 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thickened helices, Macrotia, Abnormal pinna morphology |
OMIM:614104 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal eyelash morpholo... |
ORPHA:381 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Aplasia of the ovary, Alopecia, Streak ovary, Sparse eyebrow, Cryptorchidism,... |
ORPHA:2232 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252920 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Hennekam-Beemer Syndrome |
|
Micrognathia, Subcutaneous nodule, Abnormality of skin pigmentation, High palate, Skin vesicle, C... |
ORPHA:2135 |
Keutel Syndrome |
|
Alopecia, Short stature, Optic atrophy, Dermal atrophy, Recurrent sinusitis, Pulmonary arterial h... |
ORPHA:85202 |
Chromosome 9P Deletion Syndrome |
|
Narrow nail, Micrognathia, High, narrow palate, Deep philtrum, High palate, Highly arched eyebrow... |
OMIM:158170 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Temporomandibular joint ankyl... |
ORPHA:2741 |
Localized Scleroderma |
|
Fasciitis, Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Abnormality of the dentit... |
ORPHA:90289 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Delayed peripheral myelination, Unsteady gait, Cerebral atrophy, Difficult... |
ORPHA:464282 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename... |
ORPHA:886 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Lens luxation, Ectopia lentis, Growth delay, Axonal loss, Thick vermilion border, Long philtrum, ... |
OMIM:252150 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Pallor, Thr... |
ORPHA:49827 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cach... |
ORPHA:298 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Sparse hair, Micr... |
OMIM:613610 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Short stature, Retrognathia, Dentinogenesis impe... |
ORPHA:166272 |
Stevens-Johnson Syndrome |
|
Macule, Dyspareunia, Entropion, Abnormality of neutrophils, Acantholysis, Dyspnea, Corneal erosio... |
ORPHA:36426 |
Hypotonia-Cystinuria Syndrome |
|
Macrotia, Posteriorly rotated ears, Long eyelashes |
OMIM:606407 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Protruding ear, Aplasia of the ovary, Bifid uvula, Alopecia, Psoriasiform derm... |
ORPHA:69085 |
Sialidosis Type 1 |
|
Cataract, Short stature, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Thick l... |
ORPHA:812 |
Periventricular Nodular Heterotopia |
|
Thin skin, Hernia |
ORPHA:98892 |
Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Sparse axillary hair, Absent facial hair, Primary amenorrhea |
OMIM:300068 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p... |
ORPHA:91347 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive, Respiratory failure |
ORPHA:70472 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee... |
OMIM:600920 |
Say Syndrome |
|
Macrotia |
OMIM:181180 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Large fleshy ears, Frontotemporal hypertrichosis, Posteriorly rotated ears, Low-set ears |
OMIM:263210 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Scaling skin, Accessory spleen, Short stature, Elevated circulating luteinizing hormone level, Hi... |
OMIM:618419 |
Wrinkly Skin Syndrome |
|
Redundant skin, Neonatal wrinkled skin of hands and feet, High palate, Sparse hair, Microdontia, ... |
OMIM:278250 |
Lambotte Syndrome |
|
Macrotia, Atresia of the external auditory canal |
OMIM:245552 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Wiedemann-Steiner Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, High palate, Generalized hirsut... |
ORPHA:319182 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped ... |
ORPHA:398079 |
Acces Syndrome |
|
Sparse scalp hair, Failure to thrive, Supernumerary nipple, Protruding ear, Low-set ears, Retrogn... |
OMIM:619959 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Parakeratosis, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia,... |
ORPHA:83617 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Short stature, Delayed eruption of primary t... |
OMIM:119600 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Reduced vital capacity, Myelin outfoldings, Cataract, Sensorineural hearing impai... |
ORPHA:99956 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Flexion contracture, Corneal opacity, Developmental cataract |
OMIM:618815 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:618665 |
Developmental And Epileptic Encephalopathy 110 |
|
Macrotia, Low-set ears |
OMIM:620149 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... |
OMIM:619172 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Aplasia/Hypoplasia of the skin, Short statu... |
ORPHA:1782 |
3Mc Syndrome |
|
Telecanthus, Abnormal pinna morphology, Supernumerary nipple, Highly arched eyebrow, Bilateral cr... |
ORPHA:293843 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Mixed hearing impairment, Inguinal hernia, Cataract, Preauri... |
OMIM:272460 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Partial albi... |
OMIM:193500 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Concave nail, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic ane... |
ORPHA:54028 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Cataract, Decreased number of large peripheral myelinated nerve fibers, Sensorineural hearing imp... |
OMIM:162400 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Synophrys, Low anterior hairline, Frontal upsweep of hair, Overfolded helix, Macro... |
OMIM:617061 |
Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, B... |
OMIM:258850 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Bilateral cryptorchidism,... |
OMIM:150230 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Onycholysis, Yellow-brown discoloration of the teeth, Marked ... |
OMIM:104570 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Short stature, Corneal opacity, Micrognathia, Developmental glaucoma, Downturned cor... |
ORPHA:1064 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism, M... |
OMIM:601499 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Highly arched eyebrow, Aplasia/Hypoplasia of the external ear, Long eyelashes, Low-set ears, Macr... |
ORPHA:505237 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
ORPHA:544488 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal erosion |
OMIM:122400 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, M... |
ORPHA:85199 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Corneal opacity, Abnormality of the dentition, ... |
ORPHA:582 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Pallor |
OMIM:612989 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Epicanthus, Small for gestational age, Posteriorly rotated ears, Short stature, Postnatal growth ... |
OMIM:613355 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:611528 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor |
OMIM:613341 |
Fraser Syndrome 1 |
|
Dental crowding, Malformed lacrimal duct, Conductive hearing impairment, Hypoplastic superior hel... |
OMIM:219000 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Inguinal hernia, Corneal opacity, Grayish enamel, Carious teeth, Dispropor... |
OMIM:253010 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Pallor, Thin e... |
ORPHA:2131 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Asthma, Supernumerary tooth, Recurrent pneumonia, Bronchiectasis, H... |
OMIM:619752 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Delayed eruption of teeth, Cataract, Short stature, Abnormal dental enamel mo... |
ORPHA:2238 |
Obesity And Hypopigmentation |
|
Red hair, Obesity |
OMIM:620195 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Epicanthus, Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious... |
ORPHA:363444 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Uplifted ... |
OMIM:613406 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Hiatus hernia, Postnatal growth retardation, Cryptorchidism, Hypopigmented ... |
ORPHA:2896 |
Monosomy 18Q |
|
Mandibular prognathia, Epicanthus, Failure to thrive, Slender build, Abnormal myelination, Short ... |
ORPHA:1600 |
Scheie Syndrome |
|
Mandibular prognathia, Corneal opacity |
OMIM:607016 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Obesity, Wide m... |
OMIM:105830 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Protruding ear, Low-set ears, Overfolded helix, Macrotia, Broad eyebrow, Hearing impairment |
ORPHA:481152 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Palmoplantar keratoderma, Everted lower lip... |
ORPHA:578 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Small for gestational age, Short stature, Micrognathia, Hiatus hernia, Macr... |
OMIM:251300 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Corneal opacity, Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Tes... |
ORPHA:281090 |
Trisomy 9P |
|
Hypoplastic toenails, Protruding ear, Fingernail dysplasia, Macrotia, Hypoplastic fingernail |
ORPHA:236 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Abnormal periodontium morphology, High palate, Low-set, posteriorly rotated... |
ORPHA:480880 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Short stature, Postnatal growth retardation, High palate, Downslanted palpebra... |
OMIM:616294 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbits, Sparse hair... |
OMIM:268300 |
Fanconi Anemia, Complementation Group C |
|
Hypopigmented macule, Epicanthus, Pancytopenia, Small for gestational age, Hypergonadotropic hypo... |
OMIM:227645 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of skin pigmentation, Nail dysplasia, Ciliary dysk... |
OMIM:225050 |
Osteogenesis Imperfecta, Type Xix |
|
Severe short stature, Rhizomelia, Dentinogenesis imperfecta, Hearing impairment |
OMIM:301014 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco... |
ORPHA:1946 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Cachexia, Anemia, Nail dystrophy, Nail dysplasia, Glossitis, Hyperpigmentatio... |
OMIM:175500 |
Tangier Disease |
|
Peripheral axonal neuropathy, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Facial diple... |
ORPHA:31150 |
X-Linked Intellectual Disability, Cilliers Type |
|
Macrotia, Small nail |
ORPHA:163971 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Macrotia |
OMIM:300558 |
Larsen Syndrome |
|
Short stature, Short nail, Tracheomalacia, Cleft upper lip, Corneal opacity, Cryptorchidism, Clef... |
OMIM:150250 |
Say-Barber-Miller Syndrome |
|
Micrognathia, Knee flexion contracture, Protruding ear, Abnormal T cell morphology, High palate, ... |
ORPHA:3132 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Hearing impairment |
OMIM:619877 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Low-set ears, Small nail, Macrotia |
ORPHA:166035 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Cachexia, Thrombocytopenia, Leukocyto... |
ORPHA:824 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ri... |
ORPHA:3472 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Macrotia |
ORPHA:391307 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Alopecia, Hypoventilation, Apnea, Thro... |
ORPHA:79330 |
Pontocerebellar Hypoplasia, Type 11 |
|
Macrotia |
OMIM:617695 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Subcutaneous nodule, Gingival fibromatosis, Adenoma sebaceum, Hypomelanotic m... |
OMIM:191100 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Lymphopenia, Tachypnea, Erythema, Leukopenia, Nail dystrophy, Peri... |
OMIM:615934 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Anemia, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail... |
ORPHA:166113 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy, Macrotia, Abnormal pinna morphology, Profound hearing impairment |
ORPHA:3078 |
X-Linked Intellectual Disability, Shashi Type |
|
Macrotia |
ORPHA:85286 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, L... |
OMIM:213980 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Obesity, Cleft palate, High ... |
ORPHA:251038 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Low-set ears, Long philtrum, Ocular anterior... |
OMIM:615145 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Short stature, Aplastic anemia, Abnormality of the dentition, Reticulated skin pigm... |
OMIM:613989 |
Bloom Syndrome |
|
Micrognathia, Adipose tissue loss, Paronychia, Hypopigmentation of the skin, Male infertility, De... |
ORPHA:125 |
Toxic Epidermal Necrolysis |
|
Macule, Respiratory distress, Entropion, Acantholysis, Thrombocytopenia, Corneal erosion, Erythem... |
ORPHA:537 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Thin skin, Hearing impairment |
OMIM:166200 |
Hermansky-Pudlak Syndrome 10 |
|
Macrotia, Apnea, Low-set ears, Albinism |
OMIM:617050 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Dentinogenesis imperfecta |
ORPHA:166277 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Skin tags, Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced ... |
OMIM:610706 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Truncal obesity, Macronodular adrenal hyperplasia, Thin skin, Striae distensae |
OMIM:219080 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Cataract, Hypo... |
ORPHA:3453 |
Tyrosinemia, Type Ii |
|
Growth delay, Herpetiform corneal ulceration |
OMIM:276600 |
Jalili Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Carious teeth, Retinal pigment epithe... |
OMIM:217080 |
Kleeblattschaedel |
|
Recurrent corneal erosions |
OMIM:148800 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Short stature, Apnea, Corneal opacity, M... |
ORPHA:1052 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Posteriorly rotated ears, Short stature, Sparse axillary hair, Micrognathia, S... |
OMIM:613803 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Delayed myelination, Increased mean corpuscular volume, Pallo... |
OMIM:613839 |
Xq28 (MECP2) duplication |
|
Macrotia |
DECIPHER:45 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... |
ORPHA:494444 |
Transaldolase Deficiency |
|
Pancytopenia, Small for gestational age, Thrombocytopenia, Synophrys, Deep philtrum, Asthma, Sple... |
OMIM:606003 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Inability to walk, Op... |
ORPHA:99949 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent pneumonia, Dispr... |
OMIM:253000 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High... |
OMIM:617140 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Macrotia, Toenail dysplasia, Thick eyebrow |
ORPHA:1446 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Short stature, Mesomelic short stature, Long phi... |
OMIM:184260 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Short stature, Hearing impairment, Abnormality of neutrophils, White hair, Ocular albin... |
ORPHA:2720 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Sacral dimple... |
ORPHA:175 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Neurofibroma, Erythema, Atrophic scars,... |
ORPHA:79100 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Truncal obesity, Thin skin, Striae distensae |
OMIM:610475 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Growth d... |
OMIM:618165 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia |
ORPHA:90103 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, High palate, Brushfield spots, Cryptorchidism, Hepatosplenomegaly, Low-set ears, Ab... |
OMIM:614866 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Almond-shaped palpebral fissur... |
ORPHA:398069 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Recurrent otitis media, Frontal hirsutism, Macrotia, Protruding ear |
ORPHA:3304 |
Congenital Disorder Of Glycosylation, Type Id |
|
Nail dysplasia, Macrotia, Small nail |
OMIM:601110 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Pn... |
ORPHA:309282 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A... |
ORPHA:739 |
Fragile X Syndrome |
|
Macrotia |
OMIM:300624 |
Farber Disease |
|
Respiratory distress, Short stature, Corneal opacity, Thrombocytopenia, Flexion contracture, Resp... |
ORPHA:333 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Oligodontia, Shallow orbits, Megalocornea, Short stature, Crypto... |
ORPHA:1272 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Rhizomelia, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Lo... |
OMIM:615877 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Synophrys, Low-set ears, Macrotia, Hirsutism |
OMIM:614969 |
Osteogenesis Imperfecta, Type Xxii |
|
Intrauterine growth retardation, Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:619795 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of hair, Conjuncti... |
OMIM:256040 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Epicanthus, Aplasia/Hypoplasia of the skin, Failure to thrive,... |
ORPHA:35107 |
Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Anemia |
OMIM:121270 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Secondary amenorrhea, Truncal obesity, Thin skin, Striae distensae |
OMIM:610489 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Sclerocornea, Asymmetric, linear s... |
OMIM:300952 |
Walker-Warburg Syndrome |
|
Cataract, Posteriorly rotated ears, Corneal opacity, Cryptorchidism, Submucous cleft hard palate,... |
ORPHA:899 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Large fleshy ears |
OMIM:619556 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Osteogenesis Imperfecta, Type V |
|
Short stature, Dentinogenesis imperfecta |
OMIM:610967 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Micrognathia, High, narrow palate, High palate, Neonatal respiratory distres... |
OMIM:214100 |
X-Linked Intellectual Disability, Najm Type |
|
Sensorineural hearing impairment, Macrotia |
ORPHA:163937 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Optic disc coloboma, Hypopigmented skin patches, Generalized hirs... |
ORPHA:1553 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Macrotia |
OMIM:620292 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Cleft upper lip, Micrognathia, Cryptorchidism, Extern... |
ORPHA:3103 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Synophrys, Flexion contracture, Webbed neck, Downturned corners of mo... |
ORPHA:487796 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Weight l... |
ORPHA:3226 |
Ververi-Brady Syndrome |
|
Macrotia, Cupped ear, Low-set ears |
OMIM:617982 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Numerous nevi, Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Numerous nevi, Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear... |
ORPHA:363958 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Telecanthus, Sacral dimple, Dental crowding, Supernumer... |
OMIM:257920 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Increased body weight |
ORPHA:276608 |
Tyrosinemia Type 2 |
|
Corneal opacity, Hyperkeratosis, Palmoplantar keratoderma, Malar flattening, Abnormality of the nail |
ORPHA:28378 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pulsatile tinnitus, Cranial nerve compression, Weight loss, Pallo... |
ORPHA:94080 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macrotia, Low-set ears |
OMIM:616789 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Growth delay, Azoospermia, Decreased ... |
ORPHA:300298 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, A... |
ORPHA:647 |
Syndromic Diarrhea |
|
Lymphopenia, Hypopigmentation of hair, Brittle hair, Inguinal hernia, Small for gestational age, ... |
ORPHA:84064 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Anemia, Abnorma... |
ORPHA:39041 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, High palat... |
ORPHA:139471 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Sacral dimple, Tented upper lip vermilion, Short stature, Trichiasis, Highly arched ... |
OMIM:618460 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Paronychia, Hypogeusia, Acral ulceration |
OMIM:201300 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Corneal arcus, Joint contracture of the 5t... |
OMIM:602782 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Delayed CNS myelination, Brittle hair, Splenomegaly, Sensorineural hearing ... |
OMIM:616084 |
Osteogenesis Imperfecta, Type Ix |
|
Disproportionate short-limb short stature, Dentinogenesis imperfecta |
OMIM:259440 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Micrognathia, Intrau... |
ORPHA:2050 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Optic atrophy, Hypodontia, Abnormal myelination, Failure to thrive, Downslanted pa... |
ORPHA:442835 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Hernia, Aspiration pneumonia, Cryptorchidism, Prominent eyelashes, Small n... |
ORPHA:1465 |
Ssr4-Cdg |
|
Macrotia |
ORPHA:370927 |
Lathosterolosis |
|
Epicanthus, Cataract, Hearing impairment, Micrognathia, Gingival overgrowth, Abnormal platelet mo... |
ORPHA:46059 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Erythema, Thin skin, Acantholysis |
ORPHA:455 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Cryptorc... |
OMIM:309000 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Fryns Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Tented upper lip vermilion, Median cleft lip, Cor... |
ORPHA:2059 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Postnatal growth retardation, Protruding ear, Cutis laxa, Developmental cataract... |
OMIM:616603 |
Distal Monosomy 7Q36 |
|
Macrotia |
ORPHA:1636 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Abnormality of skin pigmentation, Cough, Skin vesicle, Alopecia, ... |
ORPHA:99921 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h... |
OMIM:605594 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Hermansky-Pudlak Syndrome 8 |
|
Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular... |
OMIM:614077 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Failure to thrive, Micrognathia... |
OMIM:309350 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Redundant neck skin, Micrognathia, Postnatal growth re... |
ORPHA:1655 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... |
ORPHA:231222 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn... |
OMIM:228300 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Iron ... |
ORPHA:99931 |
Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... |
ORPHA:101085 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Macrotia, Respiratory insufficiency, Abnormal pattern of respiration, Low-set ears |
ORPHA:562528 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Decreased testicular size, Cerebellar dysplasia |
ORPHA:457240 |
Barth Syndrome |
|
Mandibular prognathia, Fair hair, Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, Gr... |
OMIM:302060 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Pallor, Large for gestational age |
ORPHA:324575 |
Rheumatic Fever |
|
Macule, Sinusitis, Epistaxis, Subcutaneous nodule, Erythema, Respiratory insufficiency, Pallor |
ORPHA:3099 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis |
OMIM:619209 |
Peters Plus Syndrome |
|
Micrognathia, Peters anomaly, Microcornea, Widely spaced teeth, Conductive hearing impairment, Ir... |
ORPHA:709 |
Osteoporosis-Pseudoglioma Syndrome |
|
Preauricular skin tag, Short stature, Corneal opacity |
ORPHA:2788 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestational age, Microretrognath... |
OMIM:229850 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... |
ORPHA:98870 |
8Q24.3 Microdeletion Syndrome |
|
Skin tags, Respiratory distress, Ectopic posterior pituitary, Naevus flammeus of the eyelid, Clef... |
ORPHA:508488 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Intellectual Disability-Strabismus Syndrome |
|
Highly arched eyebrow, Synophrys, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment |
ORPHA:363528 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Advanced eruption of teeth, Short stature,... |
ORPHA:828 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Hepatosplenomegaly... |
ORPHA:505248 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Splenomegaly, Sensorineural h... |
ORPHA:163746 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Thin upper lip vermilion, Abnormal pinna ... |
ORPHA:477817 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Hypocalcification of dental en... |
ORPHA:169090 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor, Hearing impairment |
OMIM:500007 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Epicanthus, Dry hair, Mongolian blue spot, Low anterior hairline, Preauricular skin tag |
OMIM:618569 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Micrognathia, Conical tooth, Cryptorchidism, Cleft upper lip, Cupped ear, P... |
OMIM:263750 |
Immunodeficiency 9 |
|
Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Recurrent aphthous st... |
OMIM:612782 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macrotia, Apnea |
OMIM:300055 |
Tetrasomy 9P |
|
Dental crowding, Micrognathia, Downturned corners of mouth, Inappropriate behavior, High palate, ... |
ORPHA:3310 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Optic nerve hypoplasia, Sparse eyebrow, C... |
OMIM:605627 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Short stature, Corneal dystrophy, Corneal opacity, Dyspnea... |
ORPHA:324 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ... |
ORPHA:79431 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Conical tooth, Splenomegaly, Dry skin, Aplasia of the sweat glands, Hypodontia... |
OMIM:612132 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Synophrys, Large fleshy ears, High palate, Prominent superior crus of... |
ORPHA:280633 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Acantholysis, Orthokeratosis, Growth delay, Palmoplantar keratoderma, Sp... |
OMIM:615508 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Flexion contracture, Knee flexion contracture, Short philtrum, Sparse hair, Sparse ... |
OMIM:210710 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Dental c... |
OMIM:300990 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Elevated hemoglobin A1c, Micrognathia, Sparse eyebrow, Intra-oral hyperpigmentatio... |
OMIM:619127 |
Cole-Carpenter Syndrome 1 |
|
Short stature, Micrognathia, Shallow orbits, Microdontia, Dentinogenesis imperfecta, Orbital cran... |
OMIM:112240 |
Williams Syndrome |
|
Redundant skin, Micrognathia, Hypoplastic toenails, Protruding ear, Microdontia, Megalocornea, Ab... |
ORPHA:904 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... |
ORPHA:167 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dr... |
ORPHA:384 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Pneumonia, Pancytopenia, ... |
ORPHA:309288 |
Menkes Disease |
|
Hypopigmentation of hair, Inguinal hernia, Micrognathia, Atypical scarring of skin, Umbilical her... |
ORPHA:565 |
Mosaic Trisomy 1 |
|
Microretrognathia, Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Congenital di... |
ORPHA:1692 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Thickened helices,... |
ORPHA:1555 |
Spontaneous Periodic Hypothermia |
|
Pallor, Abnormal pattern of respiration |
ORPHA:29822 |
Sotos Syndrome |
|
Posteriorly rotated ears, Sparse eyebrow, Low-set ears, Otitis media, Conductive hearing impairme... |
OMIM:117550 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Umbilical hernia, Toenail dysplasia, Aplasia cutis congenita |
OMIM:615297 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Orofacial cleft, Weight loss, Punctate keratitis,... |
ORPHA:92050 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Epidermoid cyst, Abnormality of the dentition, Pilomatrixoma, Supernume... |
ORPHA:79665 |
Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Disproportionate short-limb short stature, Pulmonary arterial hypertension, Neonata... |
OMIM:259420 |
3Q29 Microdeletion Syndrome |
|
Failure to thrive, Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Abno... |
ORPHA:65286 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276556 |
Corneal Dystrophy, Meesmann, 2 |
|
Recurrent corneal erosions |
OMIM:618767 |
Dysostosis, Stanescu Type |
|
Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the... |
ORPHA:1798 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Conjunctival icterus, Optic atrophy, High palate, Pallor, Fa... |
OMIM:606812 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Pallor |
OMIM:613464 |
Johanson-Blizzard Syndrome |
|
Downturned corners of mouth, Hypoplasia of the primary teeth, Aplasia cutis congenita of scalp, A... |
OMIM:243800 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia |
OMIM:618504 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short ... |
OMIM:227650 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276575 |
Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Corneal opacity, Mesomelic short stature, Microdontia, Intrauterine growth retarda... |
ORPHA:1765 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Large for gestational age |
ORPHA:276580 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Thin upper lip vermilion, Supernumerary nipple, Abnormality of canine, Sparse ... |
ORPHA:477993 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Pallor, Crackles |
ORPHA:60041 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:241080 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Pallor, Failure to thrive, Glossitis... |
ORPHA:90045 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cataract, Cleft lip, Thrombocytopenia, Splenomegaly, High palate, Low-set ears... |
OMIM:251290 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Lysinuric Protein Intolerance |
|
Short stature, Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Fine hair, Cutis laxa, ... |
OMIM:222700 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormal myelination |
ORPHA:431329 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Low anterior hairline, Abnormality of skin pigmentation... |
ORPHA:1449 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Epicanthus, Median cleft lip, Short stature, Accessory oral frenulum, Splen... |
OMIM:617088 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, High palate, Abnormality of ... |
ORPHA:506358 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Telecanthus, Abnormal myelination, Accessor... |
ORPHA:434179 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pa... |
OMIM:227646 |
Microhydranencephaly |
|
Macrotia |
OMIM:605013 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrotia, Patchy alopecia, Thick eyebrow, Protruding ear |
OMIM:300534 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... |
ORPHA:1959 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Keratitis, Dermal atrophy, Dry skin, Hypopigmentation of the skin,... |
ORPHA:90342 |
Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Respiratory failure requiring assisted ventilation, Mi... |
ORPHA:254519 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Respirat... |
ORPHA:496641 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ... |
OMIM:614748 |
Sepsis In Premature Infants |
|
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Leukocytosis, ... |
ORPHA:90051 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Epicanthus, Posteriorly rotated ears, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism,... |
OMIM:236670 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Asthma, Low anterior hairline, Atresia of the external auditory... |
OMIM:601808 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Macrotia, Posteriorly rotated ears, Hypoplastic fifth toenail |
OMIM:618106 |
Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Short stature, Gingival fibromatosis, Narrow palate... |
OMIM:266270 |
Glutaric Acidemia I |
|
Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Short stature, Hypoplasia of teeth |
OMIM:613312 |
Emanuel Syndrome |
|
Recurrent otitis media, Low-set ears, Cough, Severe hearing impairment, Macrotia, Hearing impairment |
ORPHA:96170 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Inguinal hernia, Short stature, Rhizomelia, Micrognathia, Recurrent pneumon... |
OMIM:613848 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pa... |
OMIM:600901 |
Mannosidosis, Alpha B, Lysosomal |
|
Sensorineural hearing impairment, Low anterior hairline, Macrotia, Thick eyebrow, Hypertrichosis |
OMIM:248500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Pleural effusion, Posteriorly rotated ears, Low-set ears |
OMIM:616897 |
Emanuel Syndrome |
|
Recurrent sinusitis, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment |
OMIM:609029 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Macrotia, Hearing impai... |
OMIM:612513 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair, Low-set ears |
OMIM:619910 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Sclerocornea, Micrognathia, Palmoplantar hyperkeratosis, Protruding ear, Sho... |
OMIM:216340 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cranial nerve ... |
ORPHA:29072 |
Warburg Micro Syndrome 2 |
|
Macrotia, Low anterior hairline, Asymmetry of the ears |
OMIM:614225 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Failure to thrive, Multiple joint contractures, Small for gestational age, Ant... |
ORPHA:464306 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion... |
OMIM:259050 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Duplication Of The Pituitary Gland |
|
Short stature, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongu... |
ORPHA:314621 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa... |
OMIM:180900 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Purpura, Epistaxis, Abnormality of neutrophils, Splenomegaly, Respiratory insu... |
ORPHA:33226 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conical tooth, Carious teeth, Cupped ear, Lacrimal duct atresia, Lacrima... |
OMIM:620192 |
47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Cryptorchidism, Oligozoospermia, Azoospermia, Dysgenesis of the... |
ORPHA:8 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia, Generalized hirsutism |
ORPHA:2510 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Corneal opacity |
OMIM:618961 |
Kabuki Syndrome 1 |
|
Micrognathia, Protruding ear, High palate, Recurrent aspiration pneumonia, Preauricular pit, Hemo... |
OMIM:147920 |
Optic Atrophy 11 |
|
Macrotia, Hearing impairment |
OMIM:617302 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone... |
ORPHA:99228 |
Monosomy X |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone... |
ORPHA:99226 |
Turner Syndrome |
|
Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone... |
ORPHA:881 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Pneumonia, Abnormal myelination |
ORPHA:85179 |
Pycnodysostosis |
|
Ridged nail, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinu... |
OMIM:265800 |
Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Splenomegaly, Sphero... |
ORPHA:822 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Abnormality of skin pigmentation, Leukopenia, High pala... |
ORPHA:84 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Macrotia, Low-set ears |
OMIM:300260 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Short stature, Micrognathia, Cryptorchidism, Growth delay, Anemia, Blepharophimosis... |
OMIM:613951 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Episodic hemolytic an... |
ORPHA:251004 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha... |
ORPHA:363618 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... |
OMIM:194380 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia |
ORPHA:1110 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Entropion, Severe short stature, Hypermelanotic macule, Bilateral cryptorchidism, ... |
OMIM:278800 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Scheie Syndrome |
|
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Wide mouth, Rhinitis, Thick verm... |
ORPHA:93474 |
Thrombocytopenia-Absent Radius Syndrome |
|
Delayed CNS myelination, Cataract, Short stature, Corneal opacity, Eosinophilia, Micrognathia, Pa... |
OMIM:274000 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aplasia/Hypoplasia of the skin, Generalized hyperpigmentation, Blepharop... |
ORPHA:3339 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Conductive hearing impairment, Papilledema, Abnormal dental morphology, Shor... |
ORPHA:217085 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Papilledema, Dental crowding,... |
OMIM:614188 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Pancreatic fibrosis, Refractory si... |
OMIM:557000 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Blue irides, Hy... |
OMIM:613266 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Corneal erosion, Optic disc coloboma, Cleft palate, Cutis laxa, Low-set ears |
OMIM:270420 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Hyperconvex fingernails, Short philtr... |
OMIM:194190 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Conductive hearing impairment, Papilledema, Abnormal dental morphology, Shor... |
ORPHA:217093 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Letterer-Siwe Disease |
|
Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Flexion contracture, Microtia |
OMIM:612138 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Low-set ears, Macrotia, Hirsutism, Hearing impairment |
ORPHA:79255 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Tachypnea, Optic atrophy, Cleft palate, Polycystic ovaries, Pallor, Cough, Megal... |
ORPHA:137675 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Macrotia |
ORPHA:2575 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Abnormal ... |
ORPHA:221 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Subcutaneous nodule, Hypopigmented skin patches, Abnormality ... |
ORPHA:626 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Ptosis |
ORPHA:13 |
Phelan-Mcdermid Syndrome |
|
Hypoplastic toenails, Protruding ear, Long eyelashes, Macrotia, Toenail dysplasia, Thick eyebrow,... |
OMIM:606232 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hypoplasia of ... |
ORPHA:436252 |
Ring Chromosome 13 Syndrome |
|
Epicanthus, Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Micrognathia, Abno... |
ORPHA:96176 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Increased body weight, Weight... |
ORPHA:905 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Posteriorly rotated ears, Hamartoma of tongue, Micro... |
OMIM:615948 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion, Erythema, Decreased proportion of class-switched memory B cells, Inter... |
OMIM:614878 |
Adenohypophysitis |
|
Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre... |
ORPHA:95512 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Overfolded helix, Macrotia |
ORPHA:324410 |
Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Alopecia, Palpebral edema, Thrombocytopenia, Skin nodule, Erythema, ... |
ORPHA:50918 |
Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Aplasia cutis congenita, Short palpebral fissure |
OMIM:614814 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Cryptorchidism, Dry skin, Opacification of the corneal stroma |
ORPHA:461 |
Panhypophysitis |
|
Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre... |
ORPHA:95513 |
Leigh Syndrome |
|
Alopecia, Sensorineural hearing impairment, Respiratory failure, Frontal hirsutism, Macrotia, Abn... |
ORPHA:506 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Cachexia, Abnormali... |
ORPHA:2072 |
Oculo-Palato-Cerebral Syndrome |
|
Thickened helices, Asthma, Macrotia, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Macrotia, Thin eyebrow, Low posterior hairline |
OMIM:618000 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... |
OMIM:612109 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ptosis, Delayed CNS myelination, Brittle hair, Cataract, Neonatal death, Failure to thrive, Heari... |
OMIM:124000 |
Cystinosis, Nephropathic |
|
Male infertility, Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Retinal ... |
OMIM:219800 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micrognathia, Flexion contracture, Neonatal respiratory distress, Sh... |
ORPHA:666 |
Liver Disease, Severe Congenital |
|
Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Cough, Pancreatic hypopla... |
OMIM:619991 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micrognathia, Large for gestational age, Flexion contracture, Knee flexion contracture, Downturne... |
OMIM:300868 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Sensorineural hearing impairmen... |
ORPHA:255210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Macrotia, Thick eyebrow |
OMIM:300243 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Synophrys, Macrotia, Hirsutism, Low posterior hairline |
ORPHA:2463 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Pu... |
ORPHA:163956 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Cleft palate, Wid... |
OMIM:243605 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Macrotia |
ORPHA:2715 |
X-Linked Intellectual Disability, Seemanova Type |
|
Macrotia |
ORPHA:85323 |
Lathosterolosis |
|
Thick upper lip vermilion, Epicanthus, Cataract, Bilobate gallbladder, Increased mean platelet vo... |
OMIM:607330 |
Familial Adenomatous Polyposis 1 |
|
Epidermoid cyst, Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma... |
OMIM:175100 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse ... |
ORPHA:3044 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Pneumothorax, Protruding ear, Macro... |
ORPHA:2953 |
Neuhauser Syndrome |
|
Large fleshy ears, Cupped ear, Low anterior hairline |
OMIM:249310 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Macrotia, Hypoplastic nipples |
OMIM:618505 |
Rabson-Mendenhall Syndrome |
|
Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Macrotia, Hirsutism, Hy... |
ORPHA:769 |
American Trypanosomiasis |
|
Splenomegaly, Dyspnea, Localized skin lesion, Pallor, Cough |
ORPHA:3386 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cranial nerve ... |
ORPHA:276621 |
Charge Syndrome |
|
Eyelid coloboma, Hypoplasia of the semicircular canal, Iris coloboma, Low-set, posteriorly rotate... |
ORPHA:138 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
19P13.13 Microdeletion Syndrome |
|
Macrotia, Long eyelashes, Low-set ears |
ORPHA:357001 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea, Micrognathia, Recurrent pneumonia, Failure to thrive, Wrist flexio... |
OMIM:609465 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Short stature, Hypoplasia of the tooth germ, Hypoplasia of the maxilla,... |
OMIM:182250 |
White-Kernohan Syndrome |
|
Synophrys, Broad medial eyebrow, Long eyelashes, Horizontal eyebrow, Low-set ears, Recurrent otit... |
OMIM:619426 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis... |
OMIM:106210 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema... |
ORPHA:500150 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Kilquist Syndrome |
|
Mandibular prognathia, Hypoplasia of teeth, Wide mouth, Bilateral sensorineural hearing impairmen... |
OMIM:619080 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Sensorineural hearing impairment, Asthma, Obesity, Growth delay, Del... |
OMIM:619269 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipodystrophy, Micrognathia, Crypt... |
OMIM:615381 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Micrognathia, Orofacial cleft, Atypical scarring of skin, High palate, T... |
ORPHA:60030 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Macrotia |
OMIM:620194 |
Sarcoidosis |
|
Increased T cell count, Subcutaneous nodule, Leukopenia, Cough, Emphysema, Hypopigmentation of th... |
ORPHA:797 |
Brachyolmia Type 1, Toledo Type |
|
Childhood-onset short-trunk short stature, Disproportionate short-trunk short stature, Opacificat... |
OMIM:271630 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Kbg Syndrome |
|
Posteriorly rotated ears, Synophrys, Low anterior hairline, Protruding ear, Low posterior hairlin... |
OMIM:148050 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia |
ORPHA:2167 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anterior hairline,... |
OMIM:614976 |
Developmental And Epileptic Encephalopathy 49 |
|
Macrotia, Long eyelashes, Thick eyebrow |
OMIM:617281 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Failure to thr... |
OMIM:620099 |
Esophageal Atresia |
|
Omphalocele, Respiratory distress, Small for gestational age, Failure to thrive in infancy, Cleft... |
ORPHA:1199 |
Chromosome 16P13.3 Duplication Syndrome |
|
Posteriorly rotated ears, Synophrys, Tracheobronchomalacia, Low anterior hairline, Protruding ear... |
OMIM:613458 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
Cystinosis |
|
Corneal opacity, Failure to thrive, Short stature, Delayed puberty |
ORPHA:213 |
Acute Radiation Syndrome |
|
Cataract, Thrombocytopenia, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Dermal atrophy,... |
ORPHA:454831 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Scarring alopecia of scalp, Ski... |
ORPHA:158684 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Malar flattening, Abnormality of the gingiva, Decreased number of small peripheral myelinated ner... |
ORPHA:64752 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Preauricular pit, Mixed hearing impairment, Lacrimal duct stenosis, Carious te... |
OMIM:615560 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Cataract, Bilateral cry... |
ORPHA:3042 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thicknes... |
OMIM:614170 |
Bdv Syndrome |
|
Macrotia |
OMIM:619326 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Inguinal hernia, Papilledema, Abnormality of retinal pigmentation, Short stature, C... |
ORPHA:580 |
Autosomal Dominant Cutis Laxa |
|
Dermal translucency, Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Postn... |
ORPHA:90348 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Neutrophilia, Eosinophilia, Pulmonary embolism, Dyspnea, Skin nodule, Asthm... |
ORPHA:3260 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:610968 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Palmoplantar keratoderma, Testicular neoplasm, Opacification of the corneal stroma |
OMIM:308100 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Pallor, Mixed astigmatism |
OMIM:617023 |
8P Inverted Duplication/Deletion Syndrome |
|
Synophrys, Macrotia, Frontal balding |
ORPHA:96092 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... |
ORPHA:649 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Thick eyebrow, Sensorineural hearing impairment, Low-set ears, Macr... |
OMIM:618971 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Leukocytosis, Tachypnea, Weight loss, Leukopenia, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma |
OMIM:164900 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
Peho Syndrome |
|
External ear malformation, Macrotia |
ORPHA:2836 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Anterior cortical cataract, Micrognathia |
OMIM:618458 |
46,Xy Sex Reversal 6 |
|
Chordee, Hirsutism, Sparse axillary hair |
OMIM:613762 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Sensorineural hearing impairment, Macrotia, Intermittent hyperventilation, Hearing impairment |
OMIM:300749 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Macrotia, Hirsutism |
ORPHA:2976 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Delayed CNS myelination, Posteriorly rotated ears, Female hypogonadism, Uplift... |
OMIM:607932 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor, Increased body weight, Large for gestational age |
ORPHA:263455 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Exertional dyspnea |
ORPHA:90037 |
Galloway-Mowat Syndrome |
|
Macrotia, Hypoplasia of the ear cartilage |
ORPHA:2065 |
Acrofacial Dysostosis, Cincinnati Type |
|
Macrotia, Anotia, Microtia |
OMIM:616462 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Tachypnea, Weight loss, Pallor, Cough, Thrombocytosis |
ORPHA:134 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Splenomegaly, Thick lower lip vermilion, Disproportionate short-trunk short stature, M... |
ORPHA:583 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus... |
OMIM:188400 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, White hair, Fine hair, Lymphopenia, Anemia |
ORPHA:935 |
Chromosome 18P Deletion Syndrome |
|
Macrotia, Posteriorly rotated ears |
OMIM:146390 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Exertional dyspnea |
ORPHA:90036 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Iris coloboma, C... |
OMIM:309800 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Ab... |
ORPHA:314647 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Asthma, Macrotia |
OMIM:615656 |
Distal Duplication 5Q |
|
Macrotia, Low-set ears |
ORPHA:96097 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Squamous cell carcinoma of the tongue, Abnormality of skin pigmentation, Nail dystr... |
OMIM:613988 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Opacification of the corneal stroma |
OMIM:230650 |
Mietens Syndrome |
|
Severe short stature, Corneal opacity, Cataract, Sclerocornea, Microcornea |
ORPHA:2557 |
Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased pr... |
ORPHA:101096 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Synophrys, Low anterior hairline, Low... |
OMIM:619512 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Thick hair, Scarring, Hiatus hernia, High, narrow palate, Atypic... |
ORPHA:198 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Hypermelanotic macule, Keratitis, Sensorineural hearing impairment, Conjunctivitis, De... |
OMIM:278700 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Small for gestational age, Corneal opacity, Ankle flexion c... |
ORPHA:464311 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating lut... |
ORPHA:90796 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Epidermoid cyst, Pilomatrixoma, Supernumerary tooth, Odontoma, Lipoma |
ORPHA:247806 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... |
ORPHA:293603 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Paraganglioma of head and neck, T... |
ORPHA:653 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Freckles in sun-exposed areas, Keratitis, Growth delay, Conjunctivitis, Dermal atrophy... |
OMIM:278750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Macrotia |
OMIM:300486 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Pallor, Facial erythema |
ORPHA:439218 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Growth delay, Heteroc... |
ORPHA:1764 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Occipital Horn Syndrome |
|
Redundant skin, Hiatus hernia, Growth delay, Coarse hair, High palate, Long philtrum, Pili torti |
OMIM:304150 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Macrotia |
ORPHA:1422 |
Asparagine Synthetase Deficiency |
|
Macrotia, Respiratory insufficiency, Simple ear |
OMIM:615574 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive |
OMIM:140350 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Small for gestational age, Conductive hearing impairment, Velop... |
ORPHA:199302 |
Gaucher Disease |
|
Pancytopenia, Short stature, Corneal opacity, Thrombocytopenia, Splenomegaly, Respiratory insuffi... |
ORPHA:355 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth, Keratoconus, Short stature, Repeat... |
OMIM:130050 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Facial palsy, Congenital localized abs... |
ORPHA:1114 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Macrotia |
OMIM:617864 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Pallor, Exertional dyspnea |
ORPHA:90033 |
Argininosuccinic Aciduria |
|
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft upper lip, Hiatus hernia... |
ORPHA:50 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Cupped ear, Large fleshy ears, Low-set ears, Overfolded helix |
OMIM:614080 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization, Short stature |
OMIM:307800 |
Neu-Laxova Syndrome |
|
Abnormal eyelash morphology, Macrotia, Abnormal hair morphology |
ORPHA:2671 |
Dyggve-Melchior-Clausen Disease |
|
Severe short stature, Rhizomelia, Corneal opacity, Respiratory insufficiency due to muscle weakne... |
ORPHA:239 |
Sympathetic Ophthalmia |
|
Papilledema, Alopecia, Cataract, Poliosis, Erythema, Anterior chamber cells, Posterior synechiae ... |
ORPHA:79098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Micrognathia, Optic atrophy, Buphthalmos, Everted lower lip vermilion, Pallor, Opacific... |
OMIM:253280 |
Arthrogryposis Multiplex Congenita 5 |
|
Prominent antihelix, Restrictive ventilatory defect, Neonatal respiratory distress, Macrotia |
OMIM:618947 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea, Ankyloblepharon |
OMIM:611038 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poiki... |
OMIM:616959 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Micrognathia, Microcytic anemia, Thrombocytopenia, Supernumerary tooth, Splenome... |
OMIM:619525 |
Holoprosencephaly |
|
Highly arched eyebrow, External ear malformation, Synophrys, Respiratory insufficiency, Abnormal ... |
ORPHA:2162 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Short stature, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy,... |
OMIM:610651 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short stature, Abnormal myelination |
ORPHA:289266 |
Irida Syndrome |
|
Hyperkeratosis, Pallor |
ORPHA:209981 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Short stature, Congenital diaphragmatic hernia, Sclerocornea, Asymmetric, linear skin d... |
OMIM:309801 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Disproportionate sh... |
OMIM:224300 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Sensorineural hearing impairment, Sub... |
ORPHA:2833 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Macrotia, Respiratory insufficiency |
OMIM:616300 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Hypersplenism, Splenomegaly, Pulm... |
OMIM:616028 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Thakker-Donnai Syndrome |
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Macrotia, Posteriorly rotated ears |
ORPHA:1780 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Sparse eyebrow, Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:617011 |
Xeroderma Pigmentosum, Complementation Group C |
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Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Freckling, Hypopigmentation of the skin, Ec... |
OMIM:278720 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Pierre-Ro... |
OMIM:268305 |
Anterior Segment Dysgenesis 5 |
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Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Pemphigus Erythematosus |
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Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Cutis Marmorata Telangiectatica Congenita |
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Purpura, Aplasia/Hypoplasia of the skin, Micrognathia, Blue nevus, Leukocoria, Orofacial cleft, M... |
ORPHA:1556 |
Gelatinous Drop-Like Corneal Dystrophy |
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Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Pallor, Hyperventilation |
ORPHA:64280 |
Microcephaly 13, Primary, Autosomal Recessive |
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Macrotia |
OMIM:616051 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Alopecia, Macrotia |
ORPHA:536532 |
Osteogenesis Imperfecta, Type Iv |
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Otosclerosis, Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Epidermoid cyst, Abnormality of the dentition, Pituitary adenoma, Supe... |
ORPHA:733 |
Fuchs Endothelial Corneal Dystrophy |
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Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Alg9-Cdg |
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Low-set, posteriorly rotated ears, Asthma, Low posterior hairline, Large fleshy ears, Hypoplastic... |
ORPHA:79328 |
Granular Corneal Dystrophy Type Ii |
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Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Norrie Disease |
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Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... |
OMIM:310600 |
Kabuki Syndrome |
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Highly arched eyebrow, Sensorineural hearing impairment, Protruding ear, Long eyelashes, Conducti... |
ORPHA:2322 |
Intellectual Developmental Disorder, X-Linked 98 |
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Macrotia |
OMIM:300912 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
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Macrotia, Thick eyebrow |
ORPHA:457212 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Astigmatism, Amelogenesis imperfecta |
OMIM:248190 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Hiatus hernia, Hypoplastic philtrum, Cryptorchidism, Nail dysplasia, Sparse hair, Preauricular sk... |
OMIM:616682 |
Alport Syndrome 2, Autosomal Recessive |
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Anterior lenticonus, Corneal erosion, Cataract, Hearing impairment |
OMIM:203780 |
Enamel-Renal Syndrome |
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Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Congenital Disorder Of Glycosylation, Type Ia |
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Macrotia |
OMIM:212065 |
Proximal Renal Tubular Acidosis |
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Cataract, Mild postnatal growth retardation, Short stature, Band keratopathy, Enamel hypominerali... |
ORPHA:47159 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, Corneal opacity, Ectopia p... |
ORPHA:85167 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Corneal Dystrophy, Thiel-Behnke Type |
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Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Meckel Syndrome |
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Low-set, posteriorly rotated ears, Accessory spleen, Cataract, Pancreatic fibrosis, Aplasia/Hypop... |
ORPHA:564 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Optic disc pallor, Limb joint contracture, Small for gestational age, Lagophthalmos, Bilateral pt... |
ORPHA:404454 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Hypoplastic helices, Macrotia, Low-set ears |
OMIM:600460 |
Alport Syndrome 1, X-Linked |
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Hypoparathyroidism, Sensorineural hearing impairment, Corneal erosion, Developmental cataract, An... |
OMIM:301050 |
Fish-Eye Disease |
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Splenomegaly, Corneal opacity |
ORPHA:79292 |
Xeroderma Pigmentosum, Complementation Group D |
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Entropion, Cataract, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Con... |
OMIM:278730 |
Mucolipidosis Iii Alpha/Beta |
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Mandibular prognathia, Opacification of the corneal stroma, Short stature, Hyperopic astigmatism |
OMIM:252600 |
Mucolipidosis Iii Gamma |
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Short stature, Opacification of the corneal stroma |
OMIM:252605 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Macrotia, Low-set ears |
OMIM:277400 |
Tay-Sachs Disease |
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Aspiration, Pallor |
OMIM:272800 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Macrotia, Bilateral sensorineural hearing impairment |
ORPHA:521445 |
Mucopolysaccharidosis Type 7 |
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Splenomegaly, Umbilical hernia, Inguinal hernia, Corneal opacity |
ORPHA:584 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Anteverted ears, Sensorineural hearing impairment, Protruding ear, Low-set ears, Macrotia, Hirsutism |
ORPHA:459070 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Sclerocornea, Cryptorchidism, Growth delay, Iris coloboma, Hearing impairment |
ORPHA:77298 |
Malignant Atrophic Papulosis |
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Cataract, Weight loss, Respiratory failure, Dermal atrophy, Pleural effusion, Papule, Ptosis |
ORPHA:679 |
Cone-Rod Dystrophy 8 |
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Abnormality of retinal pigmentation, Pallor |
OMIM:605549 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Growth delay, Peters anomaly |
OMIM:120200 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
X-Linked Hypophosphatemia |
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Odontodysplasia, Sensorineural hearing impairment, Disproportionate short stature, Enthesitis, Gr... |
ORPHA:89936 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, Abnormality of the ear, Low-set ea... |
ORPHA:171929 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
Osteogenesis Imperfecta, Type Xvii |
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Short stature, Dentinogenesis imperfecta |
OMIM:616507 |
Keutel Syndrome |
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Sinusitis, Calcification of the auricular cartilage, Airway obstruction, Recurrent otitis media, ... |
OMIM:245150 |
Amelogenesis Imperfecta, Type Ig |
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Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Okamoto Syndrome |
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Extension of hair growth on temples to lateral eyebrow, Abnormal helix morphology, Low-set ears, ... |
ORPHA:2729 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Nijmegen Breakage Syndrome |
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Sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Macrotia |
OMIM:251260 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Pneumothorax, Macrotia, Low-set ears, Protruding ear |
OMIM:617403 |
Galactosialidosis |
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Conjunctival telangiectasia, Severe short stature, Hepatosplenomegaly, Opacification of the corne... |
OMIM:256540 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati... |
ORPHA:892 |
Alport Syndrome |
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Dyspnea, Sensorineural hearing impairment, Posterior subcapsular cataract, Abnormal corneal endot... |
ORPHA:63 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Osteogenesis Imperfecta, Type Viii |
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Disproportionate short-limb short stature, Inguinal hernia, Dentinogenesis imperfecta |
OMIM:610915 |
Elliptocytosis 1 |
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Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Short stature, Cachexia, Optic atrophy, Numerous pigmented freckles, Dermal atrophy, Dry skin, De... |
ORPHA:220295 |
Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Temporomand... |
ORPHA:2388 |
Cornelia De Lange Syndrome |
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Low-set, posteriorly rotated ears, Curly eyelashes, Highly arched eyebrow, Sensorineural hearing ... |
ORPHA:199 |
Classical Ehlers-Danlos Syndrome |
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Epicanthus, Abnormality of the temporomandibular joint, Inguinal hernia, Subcutaneous spheroids, ... |
ORPHA:287 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Macrotia |
ORPHA:109 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
Senior-Loken Syndrome 8 |
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Pancreatic cysts, Pallor |
OMIM:616307 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Low-set, posteriorly rotated ears, Broad eyebrow, Macrotia, Sparse eyebrow |
ORPHA:457359 |
Cohen-Gibson Syndrome |
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Thin nail, Long ear, Small nail, Low-set ears, Macrotia |
OMIM:617561 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Opacification of the corneal stroma, Small for gestational age, Short stature, Abnormal T cell mo... |
OMIM:215250 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Congenital Primary Aphakia |
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Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Opti... |
OMIM:206900 |
Peters Anomaly |
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Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Baller-Gerold Syndrome |
|
Micrognathia, High palate, Conductive hearing impairment, Bifid uvula, Short stature, Astigmatism... |
OMIM:218600 |
Wilson Disease |
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Hypoparathyroidism, Hemolytic anemia, Thrombocytopenia, Splenomegaly, Anemia, Kayser-Fleischer ri... |
OMIM:277900 |
Subacute Cutaneous Lupus Erythematosus |
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Psoriasiform lesion, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Xeroderma Pigmentosum, Complementation Group E |
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Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278740 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Subcutaneous nodule, Lip telangiectasia, Hyperkeratosis, Thick... |
ORPHA:79280 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Macrotia |
ORPHA:168577 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Limb Body Wall Complex |
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Ventral hernia, Corneal opacity, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Lens s... |
ORPHA:2369 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Short stature, Respiratory failure, Abnormal myelination, Cerebral hypomyelination, Failure to th... |
ORPHA:280210 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Macrotia, Hirsutism |
OMIM:608594 |
Phace Syndrome |
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Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
Thauvin-Robinet-Faivre Syndrome |
|
Sensorineural hearing impairment, Macrotia, Protruding ear |
OMIM:617107 |
Acromegaly |
|
Abnormal fingernail morphology, Synophrys, Abnormal toenail morphology, Macrotia, Generalized hir... |
ORPHA:963 |
Somatomammotropinoma |
|
Abnormal fingernail morphology, Synophrys, Abnormal toenail morphology, Macrotia, Generalized hir... |
ORPHA:314769 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Pneumonia, Dyspnea, Leukocytosis, Pleural empyema, Pallor, Thrombocytopenia |
ORPHA:544482 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Skin nodule, Ging... |
OMIM:221800 |
Monosomy 22Q13.3 |
|
Hypoplastic toenails, Long eyelashes, Macrotia, Thick eyebrow, Hearing impairment |
ORPHA:48652 |
Apolipoprotein A-I Deficiency |
|
Xanthelasma, Xanthomatosis, Opacification of the corneal stroma |
ORPHA:425 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Short stature, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Nodular Non-Suppurative Panniculitis |
|
Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Weight loss, Pannicu... |
ORPHA:33577 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Macrotia, Hirsutism |
OMIM:269700 |
Lymphangioleiomyomatosis |
|
Macule, Retinal hamartoma, Dyspnea, Emphysema, Optic atrophy, Pneumothorax, Abnormality of skin p... |
ORPHA:538 |
Holoprosencephaly 14 |
|
Macrotia, Low-set ears |
OMIM:619895 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Posteriorly rotated ears, ... |
OMIM:619472 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Osteopetrosis With Renal Tubular Acidosis |
|
Conductive hearing impairment, Pulmonary arterial hypertension, Macrotia |
ORPHA:2785 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Postnatal growth retardation, Disproportionate short-trunk short stature, Opacification of the co... |
OMIM:313400 |
Holoprosencephaly 7 |
|
Synophrys, Macrotia |
OMIM:610828 |
Alzahrani-Kuwahara Syndrome |
|
Macrotia, Posteriorly rotated ears, Low-set ears, Hearing impairment |
OMIM:619268 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Sensorineural hearing impairment, Macrotia, Protruding ear |
ORPHA:500095 |
Alacrima, Congenital, Autosomal Recessive |
|
Punctate corneal epithelial erosions |
OMIM:601549 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
X-Linked Intellectual Disability, Armfield Type |
|
Macrotia, Long ear |
ORPHA:85276 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
Alagille Syndrome 1 |
|
Macrotia, Low-set ears |
OMIM:118450 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia |
OMIM:103420 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr... |
OMIM:107480 |
Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Dentinogenesis imperfecta, Long philtrum |
OMIM:610682 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Anemia |
ORPHA:329971 |
Neu-Laxova Syndrome 1 |
|
Absent eyelashes, Macrotia, Low-set ears |
OMIM:256520 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Pallor, Cough, ... |
OMIM:233450 |
Bartter Syndrome, Type 2, Antenatal |
|
Macrotia |
OMIM:241200 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test... |
ORPHA:67045 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Pontocerebellar Hypoplasia Type 7 |
|
Macrotia |
ORPHA:284339 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Macrotia, Recurrent pneumonia |
ORPHA:99646 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia, Abnormal myelination |
ORPHA:309854 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Decreased testicular size, Opacification of the corneal stroma |
OMIM:615287 |
Pmm2-Cdg |
|
Respiratory distress, Macrotia, Abnormal pinna morphology, Aspiration pneumonia |
ORPHA:79318 |