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Gene: Edaradd MGI:1931001

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Gene Summary

Name:
EDAR (ectodysplasin-A receptor)-associated death domain
Synonyms:
5830469M23Rik,  1810032E07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Edaraddem1(IMPC)Bay HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

17 Images

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Eye Morphology

VIP of left fundus

17 Images

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Eye Morphology

VIP of left eye

17 Images

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Eye Morphology

VIP of right eye

17 Images

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Human diseases caused by Edaradd mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Edaradd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormality of the dentition, Abnormality of dental morphology, Abnormal finger... ORPHA:1810
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal toenail morphology, Hypoplasia of teeth, Fine hair, Dry skin, Abnormality of dental morp... ORPHA:248
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Periorbital wrinkles, Sparse body hair, Hypoplastic nipples, Dry skin, Rhinitis, A... OMIM:614941
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Oligodontia, Brittle hair, Dry skin, Everted lower lip vermilion, Hypodontia, Sparse... OMIM:614940

The table below shows human diseases predicted to be associated to Edaradd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... 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 body hair, Sparse scalp hair OMIM:614237
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 1
Sparse body hair, Sparse axillary hair, Abnormality of the nail, Sparse eyebrow, Sparse hair, Spa... OMIM:605389
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair ORPHA:55654
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypotrichosis 11
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... OMIM:615059
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Sparse body hair, Anonychia, Aplasia cutis congenita, Anemia, Enamel hypoplasia, Oral muco... ORPHA:79402
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Hypotrichosis 10
Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Tooth agenesis, Dry skin, Mandibular prognathia, Microdontia... ORPHA:1660
Alopecia Universalis Congenita
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair OMIM:203655
Null Syndrome
CNS hypomyelination, Inability to walk, Ataxia, Difficulty walking, Demyelinating peripheral neur... ORPHA:280234
Alopecia Universalis
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes ORPHA:701
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Tooth malposition, Tooth agenesis, Abnormality of dental morphology, Alopecia, ... ORPHA:2722
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Peripheral axonal neuropathy, Decrease... ORPHA:497764
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Corpus callosum atrophy, Cerebellar ataxia associated with... OMIM:615268
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Lipoatrophy, Intrauterine growth retardation, Failure to thrive, Respiratory distres... ORPHA:261304
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe short stature, Severe postnatal growth retardation, Alopecia, Large fleshy ears, Carious t... OMIM:203550
Alopecia Areata 1
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis OMIM:104000
Anonychia-Microcephaly Syndrome
Aplastic/hypoplastic toenail, Abnormality of the dentition, Anonychia, Carious teeth ORPHA:1094
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Amelogenesis imperfecta, Trichodysplasia ORPHA:79129
Witkop Syndrome
Nail pits, Ridged nail, Fine hair, Concave nail, Small nail, Sparse hair OMIM:189500
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Milia, Nail dysplasia, Anemia, Short stature, Enamel hypoplasia, P... OMIM:226670
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Ramos-Arroyo Syndrome
Narrow palpebral fissure, Corneal ulceration, Severe short stature, Shoulder dimple, Bilateral se... ORPHA:1051
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Nail dysplasia, Corneal ulceration, Absent axillary hair, Sparse eyelashes, Rec... OMIM:148210
19Q13.11 Microdeletion Syndrome
Solitary median maxillary central incisor, Cachexia, Hearing impairment, Thin vermilion border, S... ORPHA:217346
Rapp-Hodgkin Syndrome
Bifid uvula, Onychogryposis, Absent lacrimal punctum, Hearing impairment, Cleft palate, Narrow mo... OMIM:129400
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail OMIM:614928
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormality of the dentition, Abnormality of dental morphology, Abnormal finger... ORPHA:1810
Hypertrichosis, Congenital Generalized
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Premature ovarian insufficiency, Cafe-au-lait spot, Short stature, Absent eyelashe... OMIM:618625
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair OMIM:616760
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Macrotia OMIM:300803
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Agel Amyloidosis
Cataract, Corneal ulceration, Bilateral ptosis, Abnormal spleen morphology, Dry skin, Keratoconju... ORPHA:85448
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Atrophic scars, Anonychia, Nail dystrophy, Skin erosion, Aplasia cutis congenita, Anemia, ... ORPHA:79411
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Widely spaced teeth, Fragile nails, Microdontia, Premature loss of primary teeth, Thin ... OMIM:617364
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Inability to walk, Cerebral atrophy, Ataxia, Peripheral demyelination, Axonal loss, Neurodegenera... OMIM:617672
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Ectopia lentis, Tooth agenesis, Anemia, Mandibular prognathia, Abnormal dental... ORPHA:2325
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Nail dysplasia, Facial erythema, Blepharitis, Alopecia, Enamel hypoplasia, S... OMIM:612843
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Hypodontia, Growth delay OMIM:246500
Dermoodontodysplasia
Nail dysplasia, Dry skin, Thin skin, Hypodontia, Trichodysplasia OMIM:125640
Pseudoprogeria Syndrome
Alopecia, Short stature, Absent eyelashes, Thin skin, Absent eyebrow, Failure to thrive, Sparse e... ORPHA:2985
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair ORPHA:505
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Lipodystrophy, Epicanthus, Cryptorchidism, Gingivitis, Abnormality of primary teeth, Short statur... ORPHA:75496
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Steppage gait, Peripheral axonal neuropathy, Decreased number of periph... OMIM:607250
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dysplasia, Concave nail, Absent eyelashes, Nail dystrophy, Sparse hair, Atrichia OMIM:614931
Filippi Syndrome
Cryptorchidism, Hypertrichosis, Serrated incisors, Frontal hirsutism, Intrauterine growth retarda... OMIM:272440
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Palmar hyperkeratosis, Patchy alopecia, Widely spaced teeth, Absent facial hair, A... OMIM:613573
Junctional Epidermolysis Bullosa Inversa
Milia, Anonychia, Nail dystrophy, Localized skin lesion, Anemia, Enamel hypoplasia, Oral mucosal ... ORPHA:79405
Acrogeria
Irregular hyperpigmentation, Lipoatrophy, Fine hair, Short stature, Micrognathia, Thin skin, Exce... ORPHA:2500
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Patchy alopecia, Plantar hyperkeratosis, Enamel hypoplasia, Fragile nail... OMIM:226650
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Abnormality of the dentition, Alopecia universalis, Abnormal eyelash morphology... ORPHA:1008
Goldberg-Shprintzen Syndrome
Low-set ears, Oligodontia, Corneal ulceration, Synophrys, Megalocornea, Downslanted palpebral fis... OMIM:609460
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Difficulty walking, Broad-based gait, Steppage gait, Loss of a... OMIM:614895
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Abnormality of the dentition, Tooth agenesis, Irregular hyperpigmentation... ORPHA:238468
Rubinstein-Taybi Syndrome 2
High palate, Long eyelashes, Epicanthus, Retrognathia, Posteriorly rotated ears, Downslanted palp... OMIM:613684
Erythrokeratodermia Variabilis
Cataract, Erythema, Irregular hyperpigmentation, Protruding ear, Hypermelanotic macule, Abnormal ... ORPHA:317
Late-Onset Junctional Epidermolysis Bullosa
Milia, Anonychia, Nail dystrophy, Localized skin lesion, Anemia, Enamel hypoplasia, Oral mucosal ... ORPHA:79406
Otoonychoperoneal Syndrome
Low-set ears, Abnormality of the ear, Posteriorly rotated ears, Prominent superior crus of antihe... OMIM:259780
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Bartsocas-Papas Syndrome 1
Anonychia, Inguinal hernia, Ablepharon, Upslanted palpebral fissure, Absent eyelashes, Cleft pala... OMIM:263650
Peroxisome Biogenesis Disorder 8B
Unsteady gait, Ataxia, Loss of ambulation, Tip-toe gait, Peripheral demyelination, Gait ataxia, C... OMIM:614877
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Steppage gait, Segmental peripheral demyelination, Axonal degeneration/regene... OMIM:606483
Leprosy
Corneal perforation, Verrucous papule, Enlarged peripheral nerve, Abnormality of the spleen, Epis... ORPHA:548
Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Symmetrical progressive periphe... ORPHA:208981
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Demyelinating peripheral neuropathy, Chiari type I malformation, Spastic gait, Delayed CN... OMIM:619742
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Bone Marrow Failure Syndrome 3
Epicanthus, Pancreatic steatosis, Hearing impairment, Cupped ear, Nail dystrophy, Sparse hair, Hy... OMIM:617052
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia, Fragile nails, Abnormal hair morphology OMIM:190320
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal eyelash morphology, Abnormal toenail morphology, Lipoatrophy, Irregula... ORPHA:1818
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Abnormal cerebellar cortex morphology, Decreased number of large p... ORPHA:101111
Localized Junctional Epidermolysis Bullosa
Milia, Aplasia cutis congenita, Atrophic, patchy alopecia, Sparse axillary hair, Dystrophic finge... ORPHA:251393
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Enamel hypoplasia, Palmoplantar keratoderma, Macrotia, Sparse hair, Th... OMIM:613576
Blepharophimosis-Impaired Intellectual Development Syndrome
Epicanthus, Widely spaced teeth, Thick eyebrow, Highly arched eyebrow, Sparse eyebrow, Blepharoph... OMIM:619293
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Hyperkeratotic papule, Anonychia, Localized skin lesion, Skin erosion, Abnormal toenail mo... ORPHA:79410
Gómez-López-Hernández Syndrome
Toenail dysplasia, Low-set ears, Short stature, Thin vermilion border, Corneal opacity, Alopecia ... ORPHA:1532
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Braddock-Carey Syndrome 1
Thick vermilion border, Camptodactyly, Curly hair, Posteriorly rotated ears, Downslanted palpebra... OMIM:619980
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Knee flexion contracture, Intrauterine growth retardation, Thick eyebrow, Short sta... OMIM:606242
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, Hypermelanotic macule, Abno... ORPHA:69125
Macdermot-Winter Syndrome
Posteriorly rotated ears, Low anterior hairline, Highly arched eyebrow, Macrotia, Frontal upsweep... OMIM:247990
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Xeroderma Pigmentosum
Entropion, Macule, Hearing impairment, Conjunctival telangiectasia, Erythema, Cryptorchidism, Ble... ORPHA:910
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Hepatoerythropoietic Porphyria
Keratoconjunctivitis, Seborrhoeic blepharitis, Corneal ulceration, Facial hypertrichosis, Skin er... ORPHA:95159
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Abnormal size of the palpebral fissures, Iris coloboma, Hypopig... ORPHA:3214
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Skin dimple, Aplasia cutis congenita, Spotty hyperpigmentation, Distichi... ORPHA:79133
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Short palpebral fissure, Persistent pupillary membrane, Narrow mouth, Thin vermilion ... OMIM:257850
Cranioectodermal Dysplasia
Epicanthus, Abnormality of the dentition, Abnormal toenail morphology, Rhizomelia, Taurodontia, M... ORPHA:1515
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Conical primary incisor, Curly eyelashes, Curly hair, Brittle hair, Blepharitis... OMIM:602400
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Perip... OMIM:606482
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse eyebrow, Macrotia, Hypoplas... ORPHA:113
Insensitivity To Pain, Congenital, With Anhidrosis
Nail dysplasia, Corneal ulceration, Decreased number of small peripheral myelinated nerve fibers,... OMIM:256800
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse axillary hair, Abnormality of the nail, Absent eyebrow, Onychogryposis of toenails, Nail d... ORPHA:1808
Winchester Syndrome
Corneal opacity, Hirsutism, Subcutaneous nodule, Gingival overgrowth OMIM:277950
Prolidase Deficiency
Erythema, Hyperkeratosis, Hypoplasia of the zygomatic bone, Dry skin, Low anterior hairline, Abno... ORPHA:742
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Epicanthus, Retrognathia, Trichorrhexis nodosa, Hypoplasia of teeth, Brittle hair... OMIM:234050
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Naegeli-Franceschetti-Jadassohn Syndrome
Fragile nails, Dystrophic toenail, Flexion contracture of finger, Supernumerary tooth, Carious te... ORPHA:69087
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Growth delay, Aplasia/Hypoplasia of the ... ORPHA:2891
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Dystrophic fingernails, Scarring alopecia of scalp, Carious teeth, Nail dystr... OMIM:619787
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Upslanted palpebral fissure, Narrow mouth, Sparse eyebrow, Smooth philtrum, Carious t... OMIM:244450
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Inability to walk by childhood/adolescence, CNS hypomyelinatio... OMIM:214400
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Severe short stature, Protruding ear, Hypo... ORPHA:2251
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal hair quantity, Camptodactyly of finger, Abnormality of the dentition, Primary amenorrhea... ORPHA:3220
Zimmermann-Laband Syndrome
Facial hypertrichosis, Bifid uvula, Thick eyebrow, Cleft palate, Supernumerary tooth, Long eyelas... ORPHA:3473
Pili Torti
Abnormality of the dentition, Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair,... ORPHA:2889
Ring Chromosome 6 Syndrome
Respiratory insufficiency, Low posterior hairline, Macrotia ORPHA:1448
Oliver-Mcfarlane Syndrome
Delayed puberty, Small for gestational age, Long eyelashes, Cryptorchidism, Central heterochromia... OMIM:275400
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, Ankyloglossia, Dystrophic toenail, Shallow orbits, Upper airway obstruction,... ORPHA:740
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Ablepharon, Absent eyelashes, Hearing impairment, Thin vermilion border,... ORPHA:920
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Skin erosion, Hemolytic anemia, Increased connective tissue, Reticulocytos... ORPHA:79277
De Barsy Syndrome
Epicanthus, Inguinal hernia, Narrow mouth, Large earlobe, Sparse hair, Lipodystrophy, Cryptorchid... ORPHA:2962
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... ORPHA:3361
Recessive Dystrophic Epidermolysis Bullosa Inversa
Milia, Anonychia, Nail dystrophy, Localized skin lesion, Anemia, Corneal erosion, Enamel hypoplas... ORPHA:79409
Cockayne Syndrome
Delayed puberty, Agenesis of permanent teeth, Pigmentary retinopathy, Keratoconjunctivitis sicca,... ORPHA:191
Hidrotic Ectodermal Dysplasia
Anonychia, Hearing impairment, Sparse eyebrow, Brittle scalp hair, Nail dystrophy, Sparse hair, G... ORPHA:189
Cockayne Syndrome Type 3
Cataract, Conductive hearing impairment, Corneal ulceration, Lentiglobus, Premature graying of ha... ORPHA:90324
Epidermolysis Bullosa, Junctional 1B, Severe
Milia, Nail dysplasia, Enamel hypoplasia, Failure to thrive, Congenital localized absence of skin... OMIM:226700
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Narrow palpebral fissure, Dermal translucency, Cryptorchidism, Inguinal hernia, Fine ha... OMIM:614438
17Q11.2 Microduplication Syndrome
Malar flattening, Short stature, Enamel hypoplasia, Sparse eyebrow, Thin vermilion border, Abnorm... ORPHA:139474
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Milia, Nail dysplasia, Nail dystrophy, Anemia, Corneal scarring, Alopecia, Enamel hypop... OMIM:226600
Acrofacial Dysostosis, Palagonia Type
Low-set ears, Oligodontia, Unilateral cleft lip, Malar flattening, Posteriorly rotated ears, Low ... ORPHA:1787
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Thin toenail, Abnormality of the dentition, Agenesis of permanent teeth, Fine hair... ORPHA:2228
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Low-set ears, Cryptorchidism, Inguinal hernia, Umbilical hernia, Intrauterine growth re... OMIM:219150
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Adult Syndrome
Freckling, Nail pits, Oligodontia, Breast hypoplasia, Sparse axillary hair, Hypoplastic nipples, ... OMIM:103285
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Epicanthus, Cryptorchidism, Retrognathia, Inguinal hernia, Supernumerary nipple, Fi... ORPHA:1812
Tooth Agenesis, Selective, 8
Selective tooth agenesis, Dry skin, Microdontia, Sparse eyebrow, Sparse hair OMIM:617073
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Oligodontia, Epicanthus, Narrow mouth, Sparse hair, Small for gestational age, S... ORPHA:391408
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Delayed social development, Enamel hypoplasia, Sparse lateral eyebrow, Carious teeth, Thick vermi... ORPHA:363523
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism, Tooth malposition, Hypogonadism, Abnormality of dental morpholo... ORPHA:85274
Lymphedema-Distichiasis Syndrome
Corneal ulceration, Recurrent corneal erosions, Ectropion, Distichiasis, Yellow nails, Cleft pala... OMIM:153400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplastic nipples, Brittle hair, Aplasia/Hypoplastia of the eccrine sweat glands, Absent eyelas... OMIM:305100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Onychogryposis, Oral mucosal blisters, Nail dystrophy, Aplasia cutis congenita on trunk or limbs,... ORPHA:79396
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long eyelashes, Epicanthus, Cryptorchidism, Posteriorly rotated ears, Sacral dimple... OMIM:615502
Liang-Wang Syndrome
Macroglossia, Diastema, Synophrys, Megalocornea, Downslanted palpebral fissures, Everted lower li... OMIM:618729
Trichothiodystrophy
Epicanthus, Protruding ear, Brittle hair, Keratoconjunctivitis sicca, Fragile nails, Carious teet... ORPHA:33364
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Steppage gait, Peripheral axonal atrophy, Peripheral axonal neuropathy, Decreased number of perip... OMIM:118210
Costello Syndrome
Epicanthus, Narrow palate, Large earlobe, Thick lower lip vermilion, Low-set, posteriorly rotated... ORPHA:3071
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Ramon Syndrome
Conductive hearing impairment, Abnormal anterior chamber morphology, Gingival fibromatosis, Abnor... ORPHA:3019
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Bifid uvula, Widely spaced teeth, Upslanted palpebral fissure, Optic nerve hypoplasia... OMIM:617506
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Cryptorchidism, Abnormal palate morphology, Inguinal hernia, Ane... ORPHA:2719
Monilethrix
Cataract, Abnormality of the dentition, Patchy alopecia, Abnormal eyelash morphology, Abnormal ey... ORPHA:573
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Steppage gait, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Ataxia, Difficulty walking, Peripheral axonal neuropathy, Optic ... OMIM:619425
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Abnormality of the dentition, Fragile nails, Hearing impairment ORPHA:500166
Short Syndrome
Inguinal hernia, Sparse hair, Lipodystrophy, Severe short stature, Megalocornea, Malar flattening... ORPHA:3163
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal toenail morphology, Hypoplasia of teeth, Fine hair, Dry skin, Abnormality of dental morp... ORPHA:248
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Shallow orbits, Elevated circulating thyroid-stimulating hormone c... OMIM:601812
Adult Syndrome
Toenail dysplasia, Freckling, Nail pits, Abnormality of the dentition, Breast hypoplasia, Hypopla... ORPHA:978
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Epicanthus, Iris coloboma, Hypoplasia of teeth, Short stature, Alopecia, Accessory... ORPHA:88630
Clouston Syndrome
Cataract, Nail dysplasia, Abnormality of the dentition, Onycholysis, Absent axillary hair, Fine h... OMIM:129500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Glass Syndrome
Oligodontia, Inguinal hernia, Cleft palate, Narrow mouth, Smooth philtrum, Sparse hair, Camptodac... OMIM:612313
Scarf Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Cryptorchidism, Inguinal hernia, Hypoplastic nippl... ORPHA:3134
11P15.4 Microduplication Syndrome
Synophrys, Highly arched eyebrow, Posteriorly rotated ears, Macrotia ORPHA:300305
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Thick eyebrow, Hearing impairment, Delayed eruption of teeth, Gingi... ORPHA:2222
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Low-set ears, Epicanthus, Open mouth, Prominent crus of helix, High palate, Synophrys, Widow's pe... OMIM:617804
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Nail dysplasia, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Severe sensorineural hearing impairment, Oligodontia, Abnormality of the dentition, Aplasia cutis... ORPHA:79499
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Oligodontia, Epicanthus, Conductive hearing impairment, Retr... ORPHA:557003
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi, Juvenile cataract OMIM:617251
Chromosome 19Q13.11 Deletion Syndrome, Distal
Inguinal hernia, Solitary median maxillary central incisor, Short palpebral fissure, Sparse eyebr... OMIM:613026
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Loss of ambulation, Cer... OMIM:600143
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, High palate, Hypoplasia of teeth, Lipoatrophy, Abno... ORPHA:2457
Lower Limb Malformation-Hypospadias Syndrome
Respiratory insufficiency, Low-set, posteriorly rotated ears, Macrotia ORPHA:2487
Brittle Cornea Syndrome 1
Epicanthus, Palmoplantar cutis laxa, Keratoglobus, Decreased corneal thickness, Hearing impairmen... OMIM:229200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Myelin o... OMIM:607734
Intellectual Disability, Birk-Barel Type
Open mouth, Motor axonal neuropathy, Protruding ear, Broad philtrum, Sacral dimple, Micrognathia,... ORPHA:166108
Tietz Syndrome
Abnormal anterior chamber morphology, Hearing impairment, Hypopigmentation of the skin, Hypopigme... ORPHA:42665
Eec Syndrome
Tooth agenesis, Entropion, Thick eyebrow, Cleft palate, Slow-growing hair, Sparse eyebrow, Cariou... ORPHA:1896
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, High palate, Abnormality of the dentition, Abnormal eyebrow morphology, Lack of skin el... ORPHA:90153
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Ridged nail, Onycholysis, Alopecia, Yellow nails, Enamel hypoplasia, Sparse late... OMIM:614564
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... OMIM:602032
Dyskeratosis Congenita
Abnormal eyebrow morphology, Macule, White hair, Hearing impairment, Periodontitis, Skin vesicle,... ORPHA:1775
Distal Duplication 6P
Abnormal hair quantity, Cataract, Low-set ears, Abnormal antitragus morphology, Abnormal eyelash ... ORPHA:1745
Lowry-Maclean Syndrome
Low-set ears, Inguinal hernia, Retrognathia, Megalocornea, Downslanted palpebral fissures, Talon ... ORPHA:2409
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Gait ataxia, Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation ORPHA:98916
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Gait ataxia, ... OMIM:180800
Progeroid Syndrome, Petty Type
Epicanthus, Tooth agenesis, Brittle hair, Thick eyebrow, Sparse hair, Low-set, posteriorly rotate... ORPHA:2963
Hamamy Syndrome
Inguinal hernia, Hypoparathyroidism, Sparse eyebrow, Smooth philtrum, Sparse hair, Blepharophimos... OMIM:611174
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Iris coloboma, Bilateral cleft lip and palate, Malar flattening, Ankyloglossia, Cafe... OMIM:618874
Chronic Inflammatory Demyelinating Polyneuropathy
Unsteady gait, Difficulty walking, Falls, Peripheral demyelination, Segmental peripheral demyelin... ORPHA:2932
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Peripheral demyelination, Steppage gait, Axonal regeneration, Onion bulb formation OMIM:615185
Otodental Syndrome
Cataract, Lens coloboma, High-frequency sensorineural hearing impairment, Iris coloboma, Abnormal... ORPHA:2791
Leopard Syndrome 2
Low-set ears, Epicanthus, Multiple lentigines, Curly hair, Dry skin, Downslanted palpebral fissur... OMIM:611554
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Nail dysplasia, Anodontia, Malar flattening, Brittle hair, Progressi... OMIM:225060
Oculodentodigital Dysplasia
Epicanthus, Selective tooth agenesis, Fragile nails, Short palpebral fissure, Cleft palate, Slow-... OMIM:164200
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Nail dysplasia, Retrognathia, Protruding ear, Abnormal toenail morphology, Supe... ORPHA:1809
Hypotrichosis 7
Sparse body hair, Sparse axillary hair, Brittle hair, Abnormality of the nail, Abnormal sweat gla... OMIM:604379
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Steppage gait, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Hypertrophic nerve changes, Myelin tomacula, Steppage gait, Decreased number of... OMIM:145900
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Gingival bleeding, Ankyloglossia, Dystrophic toenail, Abnormal pigmentat... ORPHA:2907
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Anodontia, Ridged nail, Fine hair, Dry skin, Microdontia, Slow-growing hair, Sparse eyebrow, Hypo... OMIM:129490
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Protruding ear, Primary amenorrhea, Bifid uvula, Contracture of the proximal int... ORPHA:293967
Rothmund-Thomson Syndrome, Type 2
Prominent antihelix, Epicanthus, Agenesis of permanent teeth, Absent eyelashes, Sparse eyebrow, S... OMIM:268400
Trichothiodystrophy 9, Nonphotosensitive
Epicanthus, Tiger tail banding, High, narrow palate, Dental malocclusion, Sparse eyebrow, Nail dy... OMIM:619692
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:607677
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Uncombable hair, Abnormality of retinal pigmentation, ... ORPHA:1264
Short Syndrome
Inguinal hernia, Rieger anomaly, Small for gestational age, Lipodystrophy, Megalocornea, Intraute... OMIM:269880
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia universalis, Abnormal pinna morphology, Cleft lip, Brittle hair, Dry s... ORPHA:2890
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Cockayne Syndrome A
Pigmentary retinopathy, Abnormal auditory evoked potentials, Carious teeth, Sparse hair, Cryptorc... OMIM:216400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Hearing impairment, Short palpebral fissure, Cleft palate, Microglossia, Intrauterin... ORPHA:364577
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebrow, Demyelinating motor neuropath... OMIM:182815
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Abnormality of the dentition, Bifid uvula, Inappropriate laughter, Low poste... OMIM:615802
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Anemia, Synophrys, Astigmatism, Downslanted palpebral fissures, Widely spaced tee... OMIM:618067
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic erectile dysfunction, Ataxia, Symmetric peripheral demyelination, Abnormal cerebellum m... OMIM:169500
Tooth Agenesis, Selective, 4
Sparse body hair, Tooth agenesis, Agenesis of permanent teeth, Short eyelashes, Dystrophic finger... OMIM:150400
Noonan Syndrome 5
Low-set ears, Epicanthus, Cryptorchidism, Multiple lentigines, Large for gestational age, Curly h... OMIM:611553
Tangier Disease
Nail dysplasia, Facial diplegia, Dry skin, Ectropion, Peripheral axonal neuropathy, Peripheral de... OMIM:205400
Cockayne Syndrome Type 2
Flexion contracture, Cryptorchidism, Widely spaced primary teeth, Anodontia, Hypermelanotic macul... ORPHA:90322
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Absent lacrimal punctum, Keratoconjunctivitis sicca, Cupped ear, Increased corneal t... ORPHA:2363
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Gait imbalance, Cerebellar atrophy, Trun... OMIM:604432
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair, Brittle hair OMIM:617252
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Milia, Skin erosion, Ridged nail, Abnormal toenail morphology, Palmoplantar hyperkeratosis, Dystr... ORPHA:89838
Intellectual Developmental Disorder, X-Linked 45
Macrotia, Protruding ear OMIM:300498
Aredyld Syndrome
Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Sparse body hair, Abnormal tragus m... ORPHA:1133
Trichothiodystrophy 3, Photosensitive
Cataract, Low-set ears, Eclabion, Tiger tail banding, Trichorrhexis nodosa, Brittle hair, Ectropi... OMIM:616395
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Severe short stature, Downslanted palpebral fissures, Intrauterine growth retardation, ... ORPHA:2643
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Lipodystrophy, Lipoatrophy, Xanthomatosis, Polycystic ovaries, Abnormality of the n... ORPHA:2348
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair, Papule, Skin plaque OMIM:101840
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Protruding ear, Dystrophic toenail, Highly arched eyebrow, Carious teeth, Nail dystrophy, Sparse ... ORPHA:3253
Odontoonychodermal Dysplasia
Anonychia, Agenesis of permanent teeth, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Er... OMIM:257980
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Long eyelashes, Conductive hearing impairment, Epicanthus, Bifid uvula, Open mouth,... OMIM:617412
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormality of the dentition, Protruding ear, Fine hair, Keratoconjunctivitis sicca, Sh... ORPHA:1806
Focal Dermal Hypoplasia
Camptodactyly of finger, Inguinal hernia, Tooth agenesis, Macule, Hearing impairment, Aplasia/Hyp... ORPHA:2092
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased testicular size, Abnormality of the dentition, Primary amenorrhea, Malar prominence, Sh... OMIM:604168
Rothmund-Thomson Syndrome
Selective tooth agenesis, Sparse eyebrow, Supernumerary tooth, Carious teeth, Aplasia/Hypoplasia ... ORPHA:2909
Growth Hormone Insensitivity Syndrome
Hypogonadism, Fine hair, Abnormality of the nail, Truncal obesity, Short stature, Hearing impairm... ORPHA:181393
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Microdontia, Abnormal fingernail morphology, Oligodonti... OMIM:604625
Specific Granule Deficiency 2
Conical tooth, Low-set ears, Nail dysplasia, Tooth malposition, Absent neutrophil specific granul... OMIM:617475
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Hypertrophic nerve changes, Gait ataxia, Onion bulb formation, Segmental peripheral demye... OMIM:601098
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Gait disturbance, Onion bulb formation, Segmental peripheral demyelination/remyeli... OMIM:311070
Charcot-Marie-Tooth Disease, Type 4H
Unsteady gait, Decreased number of peripheral myelinated nerve fibers, Peripheral hypomyelination... OMIM:609311
Xq27.3Q28 Duplication Syndrome
Premature ovarian insufficiency, Sparse body hair, Cryptorchidism, Decreased testicular size, Hyp... ORPHA:261483
Crandall Syndrome
Sparse body hair, Hypogonadism, Fine hair, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyeb... ORPHA:202
Trichodental Dysplasia
Conical tooth, Fine hair, Brittle hair, Odontodysplasia, Slow-growing hair, Hypodontia, Sparse hair OMIM:601453
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Conductive hearing impairment, Abnormal palate morphology, Fine hair, Atresia of the ... ORPHA:3236
Mulibrey Nanism
Iris coloboma, Hypoplastic frontal sinuses, Astigmatism, Pigmentary retinopathy, Intrauterine gro... OMIM:253250
Scarf Syndrome
Low-set ears, Epicanthus, Cryptorchidism, Inguinal hernia, Hypoplastic nipples, Posteriorly rotat... OMIM:312830
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Otoonychoperoneal Syndrome
Abnormal helix morphology, Abnormal antihelix morphology, Underfolded helix, Abnormality of the n... ORPHA:2793
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Oligodontia, Conical tooth, Malar flattening, Astigmatism, Persistenc... OMIM:618727
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Monilethrix
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair OMIM:158000
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Severe short stature, Protruding ear, Hypogonadism, Downslanted pa... ORPHA:2316
Gordon Holmes Syndrome
Oligomenorrhea, Cerebral atrophy, Primary amenorrhea, Ataxia, Secondary amenorrhea, Cerebellar at... OMIM:212840
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Abnormality of the nail, Widely spaced teeth, Taurodontia, Fragile nails,... ORPHA:3352
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Milia, Anonychia, Nail dysplasia, Ectropion, Enamel hypoplasia, Axillary pterygium, Oral mucosal ... OMIM:226730
Woolly Hair
Cataract, Sparse body hair, Fine hair, Brittle hair, Abnormal pupil morphology, Abnormality of ha... ORPHA:170
Hall-Riggs Mental Retardation Syndrome
Epicanthus, Intrauterine growth retardation, Enamel hypoplasia, U-Shaped upper lip vermilion, Fai... OMIM:234250
Hypotrichosis Simplex Of The Scalp
Abnormality of the dentition, Abnormal eyelash morphology, Abnormality of the axillary hair, Abno... ORPHA:90368
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Cataract, Premature ovarian insufficiency, Alopecia universalis, Vitiligo, ... OMIM:240300
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Weaver Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Redundant skin, Retrognathia, Inguinal hernia,... ORPHA:3447
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Unsteady gait, Impaired tandem gait, Clusters of axonal regeneration, Decreased number of small p... ORPHA:101097
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification OMIM:125420
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Redundant skin, Sparse lower eyelashes, Hypopigmented skin patches, Downslanted palpe... ORPHA:1807
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Milia, Spotty hypopigmentation, Reticulated skin pigmentation, Nail dysplasia, Hypomelanotic macu... ORPHA:79397
Trisomy 4P
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Abnormality of the... ORPHA:1738
Oculodentodigital Dysplasia
Camptodactyly of finger, Epicanthus, Tooth agenesis, Brittle hair, Upslanted palpebral fissure, H... ORPHA:2710
48,Xxyy Syndrome
Decreased testicular size, Epicanthus, Cryptorchidism, Inguinal hernia, Taurodontia, Upslanted pa... ORPHA:10
Subacute Inflammatory Demyelinating Polyneuropathy
Gait disturbance, Difficulty walking, Steppage gait, Symmetric peripheral demyelination, Peripher... ORPHA:206594
Trichothiodystrophy 1, Photosensitive
Trichoschisis, Protruding ear, Brittle hair, Keratoconjunctivitis sicca, Fragile nails, Nail dyst... OMIM:601675
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Sensory axonal neuropathy, Cerebellar cortical atrophy, Atrophy/Degeneration affecting th... OMIM:271245
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the dentition, Abnormality of the nail, Alopecia, Absent eyelashes, Thin skin, Abn... OMIM:607823
Ectodermal Dysplasia/Short Stature Syndrome
Anonychia, Short stature, Enamel hypoplasia, Delayed eruption of teeth, Sensorineural hearing imp... OMIM:616029
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Camptodactyly of finger, Bifid uvula, Downslanted palpebral fissures, Short stature,... OMIM:612350
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Short palpebral fissure, Thi... OMIM:601559
48,Xyyy Syndrome
Irregularly spaced teeth, Epicanthus, High palate, Enamel hypoplasia, Azoospermia, Long philtrum,... ORPHA:99329
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Short stature, High anterior hairline, Hydrocele testis, Notched primary central in... OMIM:620062
Leopard Syndrome 3
Low-set ears, Multiple lentigines, Curly hair, Dry skin, Low posterior hairline, Posteriorly rota... OMIM:613707
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Low-set ears, Epicanthus, Downslanted palpebral fissures, Mandibular prognathia, Short stature, H... OMIM:619989
Flynn-Aird Syndrome
Cataract, Dermal atrophy, Alopecia, Progressive sensorineural hearing impairment, Carious teeth, ... OMIM:136300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Oligodontia, Inguinal hernia, Selective tooth agenesis, Hypoplastic nipples, Cleft palate, Sparse... OMIM:129900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Thick hair, Parakeratosis, Dry skin, Bile duct proliferation, Alopecia, Enamel hypop... OMIM:607626
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Oligodontia, Epicanthus, Cryptorchidism, Small for gestational age, Fine hair, D... OMIM:616817
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Oligodontia, Misalignment of incisors, Astigmatism, Brittle hair, Intrauterine growth retardation... OMIM:619184
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Gait disturbance, Difficulty walking, Tip-toe gait, Decreased number of peripheral myelinated ner... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Difficulty walking, Axonal loss, Ataxia OMIM:616684
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokinesis, Cerebellar atrophy, Dysme... OMIM:607458
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Steppage gait, Difficulty walking, Onion bulb formation OMIM:618279
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Inguinal hernia, Tooth agenesis, Pierre-Robin sequence, Mandibular prognathia, Amelo... OMIM:618363
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Steppage ... OMIM:608340
Adult Krabbe Disease
Abnormal pons morphology, Gait disturbance, Ataxia, CNS demyelination, Peripheral demyelination, ... ORPHA:206448
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:234030
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Unsteady gait, Tip-toe gait, Spastic ataxia, Peripheral demyelination, Gait ata... ORPHA:397946
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Onycholysis, Fine hair, Dry skin, Abnormal dental enamel morphology, Abnormality ... ORPHA:1028
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Unsteady gait, Hypogonadism, Cerebellar hypoplasia, Cerebellar atrophy, Truncal ataxia OMIM:615768
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Narrow palpebral fissure, High palate, Epicanthus, Fine hair, Astigmatism, Delayed myelination, I... ORPHA:363686
Pfeiffer-Palm-Teller Syndrome
Epicanthus, Abnormal pinna morphology, Enamel hypoplasia, Short stature, Blepharophimosis ORPHA:2871
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Pallor ORPHA:2786
Arthrogryposis And Ectodermal Dysplasia
Narrow palpebral fissure, Oligodontia, Nail dysplasia, Hyperkeratosis, Camptodactyly, Arthrogrypo... OMIM:601701
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Protruding ear, Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Cutis laxa, Long... OMIM:619691
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Orofacial Cleft 15
Low-set ears, Cryptorchidism, Epicanthus, Protruding ear, Palate fistula, Upslanted palpebral fis... OMIM:616788
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Cerebellar atrophy, Dysmetria OMIM:617917
Arthrochalasia Ehlers-Danlos Syndrome
Epicanthus, Retrognathia, Severe short stature, Inguinal hernia, Abnormality of subcutaneous fat ... ORPHA:1899
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Difficulty walking, Segment... OMIM:601596
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Oligodontia, Synophrys, Posteriorly rotated ears, Downslanted palpebral fissures, Ectr... OMIM:602562
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed puberty, Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morp... ORPHA:1816
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Oligodontia, Sparse eyebrow, Hypodontia, Scarring alopecia of scalp, Abnormal d... ORPHA:59303
Eem Syndrome
Sparse body hair, Selective tooth agenesis, Widely spaced teeth, Abnormality of dental morphology... ORPHA:1897
Spinocerebellar Ataxia 46
Limb ataxia, Sensory axonal neuropathy, Gait ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism, Inguinal hernia, Fine hair, Microdontia, Hypodontia, Sparse hair ORPHA:1174
Hall-Riggs Syndrome
Epicanthus, Thick hair, Abnormal dental enamel morphology, Short stature, Failure to thrive, Coar... ORPHA:2107
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Gand Syndrome
Narrow palpebral fissure, Inappropriate laughter, Short philtrum, Sparse hair, Blepharophimosis, ... OMIM:615074
Rothmund-Thomson Syndrome Type 1
Tooth agenesis, Carious teeth, Growth delay, Sparse hair, Premature ovarian insufficiency, Crypto... ORPHA:221008
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, High palate, Cryptorchidism, Narrow maxilla, Camptodactyly, Intrauterine... OMIM:617602
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Epicanthus, Alopecia universalis, Enamel hypoplasia, Hearing impai... OMIM:277440
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Abnormality of the dentition, Redundant skin, Conductive heari... ORPHA:502
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Umbilical hernia, Absent lacrimal punctum, Sacral dimple, Upslanted palpebral fis... OMIM:273390
Aredyld
Mandibular prognathia, Generalized hypotrichosis OMIM:207780
Incontinentia Pigmenti
Oligodontia, Leukocytosis, Onychogryposis, Hypoplastic nipples, Nail dystrophy, Sparse hair, Eryt... OMIM:308300
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, CNS demyelination, Short stature, Enamel hy... OMIM:270200
Cohen Syndrome
Delayed puberty, Open mouth, Small for gestational age, Leukopenia, Downslanted palpebral fissure... OMIM:216550
Cerebellar-Facial-Dental Syndrome
Cataract, Low-set ears, Cryptorchidism, Inguinal hernia, Severe short stature, Fine hair, Infancy... ORPHA:444072
Koolen-De Vries Syndrome
Epicanthus, Protruding ear, Upslanted palpebral fissure, Cleft palate, Narrow palate, Overfolded ... ORPHA:96169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Dyspnea, Palmoplantar keratoderma OMIM:610476
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Oral leukoplakia, Dermal translucency, Nail dysplasia, Anemia, Fine hair, Premature graying of ha... OMIM:612199
Cardiocranial Syndrome, Pfeiffer Type
Low-set ears, Low-set, posteriorly rotated ears, Cryptorchidism, Bifid uvula, Temporomandibular j... ORPHA:2872
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Narrow mouth, Hypopigmentation of hair, Abnormal oral cavity morphology, Generaliz... ORPHA:1355
Cerebellofaciodental Syndrome
Cataract, Low-set ears, Cryptorchidism, Fine hair, Taurodontia, Short stature, Dental malocclusio... OMIM:616202
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, High palate, Redundant skin, Inguinal hernia, Lipodystrophy, Malar flattening, Brit... OMIM:219200
Zellweger-Like Syndrome Without Peroxisomal Anomalies
High palate, Epicanthus, Brittle hair, Intrauterine growth retardation, Alopecia, Upslanted palpe... ORPHA:50812
Charcot-Marie-Tooth Disease, Type 4B2
Difficulty walking, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Onion ... OMIM:604563
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Pontine T2 hypointensity, Loss of Purkinje cells in the cerebellar ve... OMIM:270550
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Low-set, posteriorly rotated ears, Cryptorchidism, Shagreen patch, Severe... ORPHA:2617
Acrodermatitis Enteropathica
Erythema, Glossitis, Ridged nail, Abnormal eyebrow morphology, Cheilitis, Corneal erosion, Abnorm... ORPHA:37
Noonan Syndrome 4
Blue irides, Low-set ears, Epicanthus, Cryptorchidism, Large for gestational age, Bilateral ptosi... OMIM:610733
Nicolaides-Baraitser Syndrome
Long eyelashes, Curly eyelashes, Cryptorchidism, Severe short stature, Downslanted palpebral fiss... ORPHA:3051
Cardiofaciocutaneous Syndrome 2
Low-set ears, High palate, Curly hair, Fine hair, Posteriorly rotated ears, Peripheral axonal neu... OMIM:615278
Congenital Ichthyosiform Erythroderma
Corneal erosion, Abnormality of the nail, Ectropion, Short stature, Alopecia, Hearing impairment,... ORPHA:79394
Abruzzo-Erickson Syndrome
Macrotia, Protruding ear, Hearing impairment OMIM:302905
Fanconi Anemia, Complementation Group S
Long eyelashes, Epicanthus, Anemia, Low anterior hairline, Upslanted palpebral fissure, Short sta... OMIM:617883
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
2Q32Q33 Microdeletion Syndrome
Low-set ears, Decreased testicular size, Oligodontia, High palate, Fine hair, Downslanted palpebr... ORPHA:251019
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, Delayed puberty, High palate, Restrictive ventilatory defect, Hypochromic anemia... OMIM:600462
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration OMIM:607736
Cockayne Syndrome B
Pigmentary retinopathy, Abnormal auditory evoked potentials, Carious teeth, Sparse hair, Small fo... OMIM:133540
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Epicanthus, Posteriorly rotated ears, Delayed myelination, Thick eyebrow, Abnormal ... ORPHA:444002
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Dermal atrophy, Alopecia, Hypoplastic fingernail, Skin vesicle, Abnormal... ORPHA:257
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Hearing impairment, Macrotia, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:2850
Kid Syndrome
Skin plaque, Onychogryposis, Keratoconjunctivitis sicca, Trichilemmoma, Prelingual sensorineural ... ORPHA:477
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal hair quantity, Goiter, Polycystic ovaries, Dry skin, Obesity, Alopecia, Hearing impairme... ORPHA:457059
Hemifacial Atrophy, Progressive
Patchy alopecia, Short mandibular rami, Poliosis, Tongue atrophy, Dental malocclusion, Delayed er... OMIM:141300
Hypotrichosis 12
Sparse axillary hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse or absent ... OMIM:615885
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Epicanthus, Distichiasis, Low anterior hairline, Thick upper lip vermilio... OMIM:227260
Charcot-Marie-Tooth Disease Type 4G
Difficulty walking, Loss of ambulation, Peripheral axonal neuropathy, Demyelinating peripheral ne... ORPHA:99953
Tonne-Kalscheuer Syndrome
Blue irides, Decreased testicular size, Cryptorchidism, Shyness, Malar flattening, Fine hair, Dow... OMIM:300978
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Dysdiadochokinesis, Spastic ataxia, Cerebellar atrophy, Onion bulb formation, Dysmetria OMIM:614487
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Pigmentary retinopathy, Hearing impairment, Foot joint contr... ORPHA:90321
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Cleft palate, Microglossia, Sparse hair, Anterior pituitary hypoplasia, Cryptorc... OMIM:151050
Spinocerebellar Ataxia, Autosomal Recessive 22
Unsteady gait, Ataxia, Cerebellar atrophy, Truncal ataxia, Dysmetria OMIM:616948
Spinocerebellar Ataxia 23
Limb ataxia, CNS demyelination, Gait ataxia, Neuronal loss in central nervous system, Cerebellar ... OMIM:610245
Oculocerebrocutaneous Syndrome
Cryptorchidism, External ear malformation, Iris coloboma, Hypopigmented skin patches, Eyelid colo... ORPHA:1647
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Long eyelashes, Fine hair, Upslanted palpebral fissure, Short stature,... ORPHA:231137
Trichorhinophalangeal Syndrome, Type Iii
Protruding ear, Short stature, Dental crowding, Sparse lateral eyebrow, Supernumerary tooth, Smoo... OMIM:190351
Smith-Magenis Syndrome
Delayed puberty, Open mouth, Conductive hearing impairment, Synophrys, Failure to thrive in infan... ORPHA:819
Sjögren-Larsson Syndrome
Erythema, Corneal erosion, Dry skin, Short stature, Abnormality of retinal pigmentation, Abnormal... ORPHA:816
Hallermann-Streiff Syndrome
Selective tooth agenesis, Narrow mouth, Narrow palate, Sparse eyebrow, Thin vermilion border, Sup... OMIM:234100
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Premature loss of teeth, High palate, Hypoplasia of teeth, Brittle ... ORPHA:50814
Tetrasomy 12P
Abnormal soft palate morphology, Upslanted palpebral fissure, Short stature, Everted lower lip ve... ORPHA:884
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Loss of ambulation, CNS demyelination, Gait ataxia OMIM:249900
Snijders Blok-Campeau Syndrome
Low-set ears, Epicanthus, High palate, Inguinal hernia, Astigmatism, Widely spaced teeth, Taurodo... OMIM:618205
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers,... OMIM:605588
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Trichorhinophalangeal Syndrome Type 1
High palate, Abnormality of the dentition, Camptodactyly of finger, Protruding ear, Fragile nails... ORPHA:77258
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Marshall-Smith Syndrome
Open mouth, Conductive hearing impairment, Retrognathia, Protruding tongue, Thin skin, Failure to... ORPHA:561
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Corneal scarring, Loss of eyelashes, Alopecia, Short stature, Joint contracture... OMIM:263700
Blepharocheilodontic Syndrome 1
Conical tooth, Aplasia cutis congenita over the scalp vertex, Nail dysplasia, Distichiasis, Lagop... OMIM:119580
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Severe short stature, Abnormal toenail morphology, Abnormal he... ORPHA:1005
Sabinas Brittle Hair Syndrome
Nail dysplasia, Brittle hair, Dry hair, Nail dystrophy, Sparse hair OMIM:211390
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Gait disturbance ORPHA:99944
Palmoplantar Keratoderma And Woolly Hair
Sparse body hair, Woolly hair, Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse scalp hair OMIM:616099
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Gait imbalance, Cer... ORPHA:101070
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Abnormality of the dentition, Generalized lipodystrophy, Dermal atrophy, Alopeci... ORPHA:90154
Helsmoortel-Van Der Aa Syndrome
Oligodontia, Epicanthus, Eyelid coloboma, Ankyloglossia, Widely spaced teeth, Truncal obesity, Up... OMIM:615873
Cranioectodermal Dysplasia 4
Epicanthus, Protruding ear, Onychogryposis, Taurodontia, Short stature, Decreased nasal nitric ox... OMIM:614378
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Wiedemann-Rautenstrauch Syndrome
Entropion, Upslanted palpebral fissure, Absent eyelashes, Narrow mouth, Sparse eyebrow, Thin verm... OMIM:264090
Temtamy Syndrome
Low-set ears, Ectopia lentis, Iris coloboma, Lop ear, Hypoplasia of teeth, Downslanted palpebral ... OMIM:218340
Rhizomelic Chondrodysplasia Punctata
Cataract, Sparse body hair, Epicanthus, Abnormality of the dentition, Rhizomelia, Dry skin, Alope... ORPHA:177
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Low-set ears, High palate, Protruding ear, Posteriorly rotated ears, Downslanted palpebral fissur... OMIM:620001
Acrootoocular Syndrome
Grayish enamel, Epicanthus, Supernumerary tooth, Pseudopapilledema, Hyperpigmented nevi, Blepharo... ORPHA:2980
Orofaciodigital Syndrome I
Epicanthus, Agenesis of permanent teeth, Ankyloglossia, Hearing impairment, Cleft palate, Supernu... OMIM:311200
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Synophrys, Thick eyebrow, Short stature, Achilles tendon contracture, ... OMIM:611091
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antitragus morphology, Conductive hearing impairment, Cryptorchidism, Abnormal palate mo... ORPHA:3082
Celiac Disease, Susceptibility To, 1
Delayed puberty, Stomatitis, Recurrent aphthous stomatitis, Alopecia, Short stature, Enamel hypop... OMIM:212750
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cerebellar atrophy, Truncal ataxia ORPHA:284271
Heimler Syndrome 1
Beau's lines, Retinal pigment epithelial mottling, Amelogenesis imperfecta, Enamel hypoplasia, Le... OMIM:234580
Kohlschutter-Tonz Syndrome-Like
Overweight, Posteriorly rotated ears, Widow's peak, Downslanted palpebral fissures, Thick eyebrow... OMIM:619229
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Dysmenorrhea, Lipodystrophy, Lipoatrophy, Xanthomat... ORPHA:280365
Vulto-Van Silfhout-De Vries Syndrome
High palate, Epicanthus, Fine hair, Widow's peak, Mandibular prognathia, Sacral dimple, Upslanted... OMIM:615828
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, ... OMIM:210720
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of the temporomandibular joint, Optic nerve hypoplasia, Hearing impa... ORPHA:536471
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Woolly Hair Nevus
Woolly scalp hair, Widely-spaced incisors, Patchy hypopigmentation of hair, Congenital posterior ... ORPHA:79414
Rothmund-Thomson Syndrome Type 2
Tooth agenesis, Cleft palate, Carious teeth, Sparse hair, Small for gestational age, Erythema, Cr... ORPHA:221016
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Unsteady gait, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Hypotrichosis 14
Sparse body hair, Absent axillary hair, Short eyelashes, Sparse hair, Sparse pubic hair OMIM:618275
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Low-set ears, High palate, Patchy alopecia, Abnormal pinna morphology, Severe postnatal... ORPHA:35173
Ohdo Syndrome
Epicanthus, Cryptorchidism, Hypoplasia of teeth, Widely spaced teeth, Short stature, Hearing impa... OMIM:249620
Schopf-Schulz-Passarge Syndrome
Poroma, Sparse body hair, Ridged nail, Onycholysis, Dry skin, Small nail, Thin nail, Hypodontia, ... OMIM:224750
Spinocerebellar Ataxia 49
Unsteady gait, Ataxia, Sensory axonal neuropathy, Loss of ambulation, Dysdiadochokinesis, Cerebel... OMIM:619806
Lelis Syndrome
Absent lower eyelashes, Vitiligo, Abnormal toenail morphology, Palmoplantar hyperkeratosis, Mandi... ORPHA:140936
Cardiac-Valvular Ehlers-Danlos Syndrome
High palate, Dyspnea, Inguinal hernia, Severe conductive hearing impairment, Short stature, Thick... ORPHA:230851
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the dentition, Abnormal eyelash morphology, Upslanted pal... ORPHA:1794
Noonan Syndrome 6
Low-set ears, Epicanthus, Cryptorchidism, Multiple lentigines, Bilateral ptosis, Curly hair, Down... OMIM:613224
Cardiofaciocutaneous Syndrome 4
Cataract, Multiple lentigines, Epicanthus, Curly hair, Alopecia of scalp, Decreased response to g... OMIM:615280
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Patchy alopecia, Posteriorly rotated ears, Upslanted palpebral fissure, Short statu... OMIM:617763
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Thick eyebrow, Upslanted palpebral fissure, Short palpebral fissure, Nevus flammeus o... OMIM:617360
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Gait disturbance, Axonal loss, Onion bulb formation OMIM:611228
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Sparse hai... ORPHA:181
Borjeson-Forssman-Lehmann Syndrome
Cataract, Decreased testicular size, Cryptorchidism, Camptodactyly of toe, Hypogonadism, Truncal ... ORPHA:127
Pycnodysostosis
Rhizomelia, Carious teeth, Cerebral dysmyelination, Hepatosplenomegaly, Overweight, Abnormality o... ORPHA:763
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased number of peripheral myelinated ner... OMIM:607080
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Respiratory insufficiency, Corneal opacity, Microcornea, Large for gestation... ORPHA:2432
Cardiofaciocutaneous Syndrome
Epicanthus, Brittle hair, Multiple cafe-au-lait spots, Slow-growing hair, Sparse hair, Webbed nec... ORPHA:1340
Seckel Syndrome 5
Low-set ears, Cryptorchidism, Oligodontia, Selective tooth agenesis, Retrognathia, High palate, D... OMIM:613823
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Steppage gait, Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers,... OMIM:609260
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism ORPHA:2574
Dental Anomalies And Short Stature
Oligodontia, Widely spaced teeth, Mandibular prognathia, Amelogenesis imperfecta, Short stature, ... OMIM:601216
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia, Cerebellar atrophy OMIM:613909
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fi... OMIM:208920
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Cryptorchidism, Tooth agenesis, Abnormal palate morphology, Ab... ORPHA:1786
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly