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Gene: Hip1 MGI:1099804

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Gene Summary

Name:
huntingtin interacting protein 1
Synonyms:
HIP-1,  A930014B11Rik,  E130315I21Rik,  2610109B09Rik

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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
abnormal vertebrae morphology Hip1em1(IMPC)Hmgu HOM Early adult 1.22×10-08
hyperactivity Hip1em1(IMPC)Hmgu HOM Early adult 3.37×10-12
increased bone mineral content Hip1em1(IMPC)Hmgu HOM Early adult 7.12×10-12
abnormal gait Hip1em1(IMPC)Hmgu HOM Early adult 3.02×10-08
decreased circulating creatinine level Hip1em1(IMPC)Hmgu HOM Early adult 9.47×10-07
decreased vertical activity Hip1em1(IMPC)Hmgu HOM Early adult 7.12×10-17
decreased body length Hip1em1(IMPC)Hmgu HOM Early adult 2.66×10-07
corneal opacity Hip1em1(IMPC)Hmgu HOM Early adult 3.59×10-06
decreased locomotor activity Hip1em1(IMPC)Hmgu HOM Early adult 4.27×10-35
abnormal cornea morphology Hip1em1(IMPC)Hmgu HOM Early adult 3.38×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Hip1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Spermatogenic Failure 17
Male infertility OMIM:617214
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Cataract 29
Cataract OMIM:115800
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 44
Developmental cataract OMIM:616509
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Microphthalmia/Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity, Ataxia ORPHA:3177
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia OMIM:213000
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Spinal muscular atrophy, Tremor, Loss of ambulation, Proximal ... OMIM:182980
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity ORPHA:351
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Trichomegaly
Cataract OMIM:190330
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait disturbance, Ataxia, Sco... ORPHA:101075
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Kyphosis, Lumbar hypolordosis, Squared-off platyspondyly, Intervertebr... OMIM:271530
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, ... OMIM:277950
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,... ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Distal amyotrophy, Hand muscle weak... ORPHA:101077
Osteomesopyknosis
Low back pain, Infertility OMIM:166450
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Spinal muscular atrophy, Tremor, Cal... OMIM:615048
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Scoliosis ORPHA:171844
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Spasticity, Ankle flexion contracture, Proximal muscle w... OMIM:616668
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio... OMIM:269400
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Hemochromatosis, Type 1
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impoten... OMIM:235200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Obesity, Lower limb spasticity, Ataxia... OMIM:616756
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Gait disturbance, Lower limb spasticity, Hyperlordosis, Proximal amyotrophy, Short ... OMIM:617404
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hepatosplenomegaly, Premature ovarian insufficienc... ORPHA:79237
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Nathalie Syndrome
Cataract ORPHA:2663
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Leg muscle s... ORPHA:391411
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb m... OMIM:610687
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia OMIM:271310
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Facial myokymia, Ataxia, Short stature, Kyphosis OMIM:620007
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Distal amyotrophy, Tremor, Kyphoscoliosis OMIM:619099
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Deleted in azoospermia
Azoospermia OMIM:400003
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
X-Linked Retinoschisis
Cataract ORPHA:792
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Corneal dystrophy, Developmental cataract OMIM:271320
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Gait ataxia, Myoclonus... OMIM:607317
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Ant... OMIM:604229
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Developmental cataract, Ataxia, Corneal dystrophy ORPHA:2572
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Progressive gait ataxia, Babins... OMIM:607458
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Hypomimic face OMIM:128235
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Platyspondyly, Short neck, Aplasia/Hypoplasia of the lens, Micro... ORPHA:85194
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Roussy-Lévy Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Frequent falls, Difficult... ORPHA:3115
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Foot dorsiflexor weakness, Lower limb amyotrophy, Scoliosis, Kyphosis, Upper ... OMIM:617087
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia OMIM:276880
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Microphthalmia ORPHA:363741
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... ORPHA:101110
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... OMIM:255600
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Dermoids Of Cornea
Corneal opacity OMIM:304730
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus, Dystonia, Kyphosis, Lower li... OMIM:614898
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Babinski ... OMIM:609260
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Limb ataxia, Tremor, Babinski sign,... ORPHA:251282
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Short statu... OMIM:303350
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Hand tremor, Lower limb muscle weakness, Head tremor, Limb dysmetria, Limb mu... OMIM:614409
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg... OMIM:609285
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Short stature, Small for gestational age, Waddling gait OMIM:618392
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:2528
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Scoliosis, Kyphosi... OMIM:300718
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Hypogonadism, Obesity, Cryptorchidism, Microphthalmia OMIM:601794
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Thoracic scoliosis, Tremor, Ataxia, S... OMIM:610185
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Death in childhood, Kyphoscoliosis, Developmental cataract, Microphthalm... OMIM:610756
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia, Scoliosis OMIM:614018
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia ORPHA:231736
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Cataract 47
Cataract, Microcornea OMIM:612018
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age OMIM:278780
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
X-Linked Intellectual Disability, Hedera Type
Frequent falls, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysm... ORPHA:93952
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness, Loss of ambulation, Ataxia, Short stature, Unsteady gait, Sco... OMIM:618124
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Gait ataxia, Limb muscle weakness, Tremor, Dysmetria, Foot dorsiflexor weaknes... OMIM:618387
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Hyperlordosis, Corneal opacity,... ORPHA:577
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Corneal opacity ORPHA:2370
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Secondary amenorrhea, Decreased testicular size, Obesity, Cryptorchidism, Polycystic ov... ORPHA:3085
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Multiple joint contractures, Tremor, Babi... OMIM:128100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Frequent falls, Difficulty walking, Inability to walk... ORPHA:2590
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Spina bifida occul... OMIM:612109
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Skeletal muscle atrophy, Difficulty walking, Delayed menarche, Inability to wa... ORPHA:330050
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity, Limb dystonia, Tremor, Ataxia OMIM:620270
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Combined Oxidative Phosphorylation Deficiency 45
Short neck, Failure to thrive, Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Facial myokymia, Parkinsonism, Dysdiadocho... OMIM:604326
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Frequent fal... OMIM:159950
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Intrauterine growth retardation, Chorea, Intention tremor, Dysmetria, A... ORPHA:48431
Galactosemia Ii
Cataract OMIM:230200
Nanophthalmos 4
Microphthalmia OMIM:615972
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of... ORPHA:99750
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Abnormality of the Achilles tendon, Progre... ORPHA:98763
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Mevalonic Aciduria
Cataract, Nuclear cataract, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in inf... OMIM:610377
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Short neck, Microphthalmia, Small for g... ORPHA:1617
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia, Scoliosis ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Tip-toe gait, Frequent falls, Difficulty walking, Shoulder gird... OMIM:607155
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Tip-to... OMIM:606612
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Nanophthalmos
Microphthalmia ORPHA:35612
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Elevated creatine kinase after exercise ORPHA:352470
Galactosemia Iv
Cataract OMIM:618881
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Imp... OMIM:605899
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... ORPHA:465508
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Short stature, Wad... OMIM:616583
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Dysdiadochokinesis OMIM:616291
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Hyp... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Obesity, Facial hypotoni... OMIM:300055
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Death in infancy, Neonatal death, Microphthalmia OMIM:613730
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unsteady gait, B... OMIM:617435
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias ORPHA:141333
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Tremor, Babinski sign, Lower limb spasticity, Clo... OMIM:600363
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:408
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Campt... OMIM:606703
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, ... OMIM:230650
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Kyphoscoliosis, Distal lower li... ORPHA:459033
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Truncal obesity OMIM:617547
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia OMIM:618093
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Facial diplegia, Foot ... ORPHA:329478
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Inability to walk, Postnatal growth retardation, Bilateral fa... ORPHA:319332
Cofs Syndrome
Cataract, Hypogonadism, Death in infancy, Short neck, Microphthalmia ORPHA:1466
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Carpal osteolysis, Inability to walk, Metacarpal osteolysis, Metatarsal osteolysis, O... OMIM:166300
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Thenar muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Tremo... OMIM:118300
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait... OMIM:617013
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature, U... OMIM:213200
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb ... OMIM:619028
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L... ORPHA:209335
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract, Lumbar hyperlordosis ORPHA:2848
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Obesity, Tremor, Kyphoscoliosis, Parkinsonism, ... ORPHA:3077
Young Syndrome
Azoospermia OMIM:279000
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Pulmonary Blastoma
Weight loss ORPHA:64741
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Gait ataxia, Action tremor, Kyphoscoliosis OMIM:180800
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Neutral hyperaminoaciduria, Episodic ataxia OMIM:234500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Progressive spastic paraplegia, Difficulty walking, Obe... ORPHA:464282
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... OMIM:609223
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Warburg Micro Syndrome 1
Microcornea, Failure to thrive, External genital hypoplasia, Cryptorchidism, Kyphoscoliosis, Deve... OMIM:600118
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ... OMIM:616710
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Neonatal death, Microphthalmia, Bicornuate uterus OMIM:615524
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lumbar hyperlordosis, Lester's sign, Antecubital pterygium, M... OMIM:161200
Atypical Rett Syndrome
Spasticity, Involuntary movements, Growth delay, Limb myoclonus, Pill-rolling tremor, Hand apraxi... ORPHA:3095
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerate... OMIM:609541
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia OMIM:616421
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Hyperactivity ORPHA:85288
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis ORPHA:2429
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Kyphoscoliosis, Microphthalmia OMIM:300915
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Intrauterine growth retardation, Myopathy, Dystonia, Flexion contrac... OMIM:618237
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Proximal Myotonic Myopathy
Cataract ORPHA:606
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia OMIM:617836
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Hand muscle weakness, Difficulty walking, Incoordination, Distal lower... OMIM:302800
Sialidosis Type 2
Osteoporosis, Kyphosis, Corneal opacity, Ataxia ORPHA:87876
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Progressive extrapyramidal movement disorder, Involun... ORPHA:401768
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dystonia ORPHA:324588
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Hypomi... OMIM:618049
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... ORPHA:370980
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... OMIM:612736
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Optic nerve hypoplasia, Failure to thrive, Zonular cataract, Coronal cleft vertebrae, S... OMIM:222765
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cdkl5-Deficiency Disorder
Growth delay, Difficulty walking, Gait disturbance, Scoliosis, Kyphosis ORPHA:505652
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating calcitonin concentration, Weight loss, Elevated c... ORPHA:100083
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Gait disturbance, Keratoglobus, Sclerocornea, Fla... OMIM:614170
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Intrauterine growth retardati... OMIM:255200
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Thoracic scoliosis, Lumbar scoliosis, Microphthalmia OMIM:616171
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Idiopathic Achalasia
Weight loss, Decreased circulating prealbumin concentration ORPHA:930
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... OMIM:617145
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Kyphosis ORPHA:319199
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc... OMIM:610743
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Dysdiadochokinesis, Ectopia lentis, Cystinuria, Hyperlysinemia,... OMIM:238700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Hypogonadism, Abnormality of the ovary, Decreased testicular size, Kyphosis ORPHA:1875
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Elevated circulating creatine kinase concentration, Hyperlordosis, Thoracic scoliosis ORPHA:62
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Inability to walk, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function,... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance OMIM:618090
Harel-Yoon Syndrome
Ataxia, Inability to walk, Developmental cataract, Corneal opacity, Scoliosis OMIM:617183
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal py... ORPHA:96
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb ataxia, Gait a... OMIM:615157
Cataract-Ataxia-Deafness Syndrome
Short stature, Hypertonia, Tremor, Ataxia ORPHA:1368
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Bea... OMIM:618961
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Camptodactyly, Kyphosis OMIM:618453
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Galactose Epimerase Deficiency
Cataract, Weight loss, Splenomegaly ORPHA:79238
Wagr Syndrome
Cataract, Obesity, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral m... ORPHA:893
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Hsd10 Disease
Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Gait disturbance,... ORPHA:391417
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Ataxia, Poor coordination, Scoliosis OMIM:617665
Kniest Dysplasia
Platyspondyly, Cataract, Hypoplasia of the odontoid process, Vertebral wedging, Cervical spine in... ORPHA:485
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Muscle fiber spli... OMIM:181405
Sialidosis Type 1
Aminoaciduria, Cataract, Ataxia, Abnormal form of the vertebral bodies, Gait disturbance, Corneal... ORPHA:812
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Hypomimic face, B... ORPHA:70594
Nathalie Syndrome
Cataract OMIM:255990
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Behr Syndrome
Hamstring contractures, Dysmetria, Tremor, Babinski sign, Gait disturbance, Achilles tendon contr... OMIM:210000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Difficulty walking, Inability to wal... OMIM:611890
Intestinal Dysmotility Syndrome
Cataract, Weight loss, Failure to thrive OMIM:620045
Aniridia 3
Cataract, Aniridia OMIM:617142
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Short stature... OMIM:614831
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Congenital Myopathy 2A, Typical, Autosomal Dominant
Slender build, Hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity OMIM:161800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Difficulty walking, Kyphoscoliosis, Ataxia, Dystonia OMIM:616684
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Richieri Costa-Da Silva Syndrome
Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreas... ORPHA:3101
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Cortical cataract OMIM:616468
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Hyperlordosis, Scoliosis ORPHA:1387
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Pseudobulbar paralysis, Foot dorsiflexor... OMIM:616586
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Failure to thrive, Tetraparesis, Antalgic gait, Tremor OMIM:620546
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Secondary amenorrhea, Irregular vertebral endplates OMIM:612847
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Smal... OMIM:261640
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Pierpont Syndrome
Microcornea, Cryptorchidism, Short neck, Microphthalmia, Scoliosis, Small for gestational age ORPHA:487825
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Loss of ambulation, Corneal opacity, Osteoporosis, Waddling gait ORPHA:2788
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Pelizaeus-Merzbacher Disease
Spasticity, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Short stature, Dyst... ORPHA:702
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Broad-based gait, Tremor, Spastic tetraparesis OMIM:619470
Baralle-Macken Syndrome
Spasticity, Inability to walk, Obesity, Dystonia, Kyphosis OMIM:619255
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea... OMIM:615516
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Progressive gait a... ORPHA:284324
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic kyphosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Thor... ORPHA:206546
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Tremor, Rigidity, Dyst... OMIM:606693
Pierpont Syndrome
Microcornea, Failure to thrive, Cryptorchidism, Decreased body weight, Short neck, Microphthalmia... OMIM:602342
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Hyperlordosis, Death in infancy, Spinal rigidity ORPHA:157973
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Arm dystonia, Skeletal muscle atrophy, Lower limb muscle weakness, Fasciculations, Dy... ORPHA:88644
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Tremor, Ataxia OMIM:618637
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... ORPHA:75840
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Scoliosis, Kyphosis, Ataxia ORPHA:85317
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Self-mutilation, Maternal hyperphen... OMIM:261600
Cystinosis
Aminoaciduria, Polydipsia, Rickets, Hypokalemia, Hypophosphatemia, Gait disturbance, Corneal opac... ORPHA:213
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Bresek Syndrome
Iris coloboma, Decreased testicular size, Cryptorchidism, Neonatal death, Hemivertebrae, Micropht... ORPHA:85284
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Kypho... OMIM:618484
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Scoliosis, Kyphosis, Ataxia OMIM:300861
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity OMIM:609308
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia... OMIM:619738
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:615156
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,... OMIM:312080
Adult-Onset Cervical Dystonia, Dyt23 Type
Neck muscle hypertrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial... ORPHA:420492
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor aprax... OMIM:208920
Gerstmann-Straussler Disease
Spasticity, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Pa... OMIM:137440
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Reduced bone mineral density, Short neck, Gait disturbance,... ORPHA:582
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Inability to walk, Limb fasciculations, T... ORPHA:90117
Nemaline Myopathy 5C, Autosomal Dominant
Slender build, Scoliosis, Hyperlordosis OMIM:620389
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Failure to thrive, Death in childhood, Optic nerve hypoplasia OMIM:620609
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnormal pyramidal sign, I... OMIM:612016
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Elevated circulating creatine k... OMIM:160500
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosi... OMIM:222600
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Rett Syndrome
Spasticity, Skeletal muscle atrophy, Gait ataxia, Cachexia, Gait apraxia, Short stature, Truncal ... OMIM:312750
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Tremor, Rigidity, Loss of ambulation, Dystonia OMIM:615010
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Juvenile Sialidosis Type 2
Cataract, Abnormal form of the vertebral bodies, Dysmetria, Loss of ambulation, Corneal opacity, ... ORPHA:93399
Ectopia Lentis 1, Isolated, Autosomal Dominant
Scoliosis, Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Leg muscle stiffness, Generalized limb muscle atrophy, Difficulty walking, Flexion contracture, T... ORPHA:137898
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Erythrokeratodermia Variabilis
Cataract, Weight loss, Abnormal testis morphology, Corneal opacity ORPHA:317
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Gait disturbance, Corneal opacity OMIM:620469
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Myopathy, Dystonia, Dysdiadochokinesis, Progressive ce... ORPHA:254881
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Hyperlordosis, Back pain OMIM:618129
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Astigmatism, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal amyotrophy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hyper... OMIM:616505
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Leg muscle stiffness, Tremor... OMIM:615530
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hemolytic anemia OMIM:608885
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... ORPHA:432
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:618877
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia, Syndromic 8
Microcornea, Cryptorchidism, Microphthalmia OMIM:601349
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Akinesia, Cogwheel rigidity, Rigidity, ... ORPHA:97349
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Cataract, Short neck, Ambiguous genitalia, Microphthalmia ORPHA:93267
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Failure to thrive, Tongue-like lumbar vertebra... OMIM:264180
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Gait ataxia, Corneal opacity, Spastic gait, Scoliosis ORPHA:496790
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Cachexia, Weight loss, Failure to thrive OMIM:612075
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Aggressive behavior, Attention deficit hy... OMIM:152950
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Norrie Disease
Cataract, Ectopia lentis, Uterine rupture, Failure to thrive, Hypoplasia of the iris, Abnormal pu... ORPHA:649
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Hand tremor, Hand muscle weakness, Tibialis anterior muscl... ORPHA:101076
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Spinal canal stenosis, Corneal opacity ORPHA:93476
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Annular pancreas, Hypogonadism, Cryptorchidism, Kyphoscoliosis, Zonular ca... OMIM:268400
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Delayed pubert... OMIM:607694
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormality of coordina... ORPHA:442835
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait OMIM:616795
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Mucopolysaccharidosis, Type Ivb
Ataxia, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Corneal opacity, Osteop... OMIM:253010
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
King-Denborough Syndrome
Failure to thrive, Lumbar hyperlordosis, Kyphoscoliosis, Elevated circulating creatine kinase con... OMIM:619542
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Obesity, Scoliosis, Kyphosis ORPHA:276630
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hyperlordosis, Hypertonia, Short stature ORPHA:1192
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity ORPHA:267
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Alpha-Mannosidosis
Cataract, Craniofacial hyperostosis, Short neck, Corneal opacity, Scoliosis, Kyphosis ORPHA:61
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia, Choreoathetosis OMIM:612438
Mucolipidosis Type Iii Alpha/Beta
Difficulty walking, Kyphoscoliosis, Loss of ambulation, Short neck, Corneal opacity, Generalized ... ORPHA:423461
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Death in ... OMIM:256050
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Microphthalmia OMIM:274270
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Vitreoretinochoroidopathy
Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Scoliosis, Choreo... OMIM:620023
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Scoliosis, Paroxysmal bursts of laughter, Impulsivit... OMIM:620445
Juvenile Huntington Disease
Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Bradykinesia, Progressive cerebellar ataxia ORPHA:248111
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, ... ORPHA:1170
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Failure to thrive in infancy, Microphthalmia OMIM:618805
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, Anophthalmia, Cryptorchidism, Hemivertebrae, Micropht... ORPHA:77298
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Cryptorchidism, Microphthalmia,... OMIM:610125
Spinocerebellar Ataxia 2
Ataxia, Spasticity, Distal amyotrophy, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, A... OMIM:183090
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Scoliosis, Congenital foot contractures ORPHA:3454
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Spastic gait, Skeletal muscle atrophy, Tip-toe gait, Postural tremor, Kyphoscoliosis,... ORPHA:447760
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Failure to thrive, Death in childhood, Decreased pineal volume, Microphthalmia OMIM:301108
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... OMIM:607483
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Cerebrooculofacioskeletal Syndrome 1
Cataract, Failure to thrive, Death in childhood, Cryptorchidism, Kyphoscoliosis, Microphthalmia, ... OMIM:214150
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Delayed puberty, Sho... OMIM:301900
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, Failure to thrive OMIM:617352
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased le... OMIM:271980
Retinitis Pigmentosa 40
Cataract OMIM:613801
Dystonia-Deafness Syndrome 1
Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Kyphoscoliosis, Lo... OMIM:607371
Episodic Ataxia Type 1
Tip-toe gait, Kyphoscoliosis, Clumsiness, Calf muscle hypertrophy, Hypertonia, Poor coordination,... ORPHA:37612
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Familial Dysautonomia
Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Gait disturbance, Corneal opacity,... ORPHA:1764
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Increased body mas... OMIM:300957
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Decreased testicular size, Lumbar hyperlordosis, External genital hypoplasia, Kypho... ORPHA:3041
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Gait disturbance, Scoliosis, Kyphosis ORPHA:2181
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract, Kyphoscoliosis OMIM:601701
4H Leukodystrophy
Upper motor neuron dysfunction, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, ... ORPHA:289494
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Otodental Syndrome
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Intrauterine growth retardation, Tremor, Lethargy, Gait disturbance, ... ORPHA:765
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Anophthalmia, Cryptorchidism, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:139471
Ataxia-Telangiectasia
Spasticity, Skeletal muscle atrophy, Failure to thrive, Tremor, Gait disturbance, Delayed puberty... ORPHA:100
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Joint contracture of the hand, Kyphosis, Congenital contracture, Cerebral palsy, Arth... ORPHA:352490
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Short neck, Lumbar kyphosis, Hyperlordosis, Os... OMIM:253000
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Hyperlipidemia, Elevated circulat... OMIM:615980
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... OMIM:617396
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Kyphoscoliosis, Hyperlordosis, Truncal obesity, Coronal cleft vertebrae, Scoliosis, Irre... OMIM:618363
Ck Syndrome
Slender build, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Nemaline Myopathy 2
Slender build, Hyperlordosis, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity OMIM:256030
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Growth delay, Difficulty walki... OMIM:617675
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:98773
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Failu... OMIM:254090
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Insulin Autoimmune Syndrome
Weight loss, Hyperinsulinemic hypoglycemia ORPHA:411593
Myasthenic Syndrome, Congenital, 14
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:616228
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Lumbar kyphoscoliosis, Ataxia, Dystonia, Growth delay, Choreoathetosis OMIM:619422
Joubert Syndrome 37
Decreased testicular size, Lumbar hyperlordosis, Obesity, Cryptorchidism, Microphthalmia, Micropenis OMIM:619185
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Arthrogryposis multiplex congenita, Cerebral palsy, Intrauterine growth retardation, Hy... OMIM:615834
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Upper limb muscle weakness, Difficulty walking, Hemiplegia, Spastic diplegia... ORPHA:206443
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Microphthalmia, Spina bifida occulta, Opacification of the corneal stroma, ... OMIM:169550
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Gracile Bone Dysplasia
Failure to thrive, Aniridia, Death in infancy, Microphthalmia, Micropenis, Asplenia, Hypoplastic ... OMIM:602361
Warburg Micro Syndrome 3
Cataract, Microcornea, Small scrotum, Decreased testicular size, Kyphoscoliosis, Developmental ca... OMIM:614222
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Hypertonia, Ataxia, Thoracic kyphosis OMIM:619092
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Huntington Disease-Like 2
Weight loss ORPHA:98934
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... ORPHA:99956
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Scoliosis, Hyperactivity ORPHA:457260
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Corneal opacity, Megalocornea ORPHA:2741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Tremor, Kyphoscoliosis, Joint contracture, Dystonia, Choreoathetosis OMIM:617664
Facioscapulohumeral Dystrophy
Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:269
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br... OMIM:168605
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Inability to walk, Tremor, Hypertonia, Ataxia OMIM:619556
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Vertebral segmentation defect, Short neck, Hype... ORPHA:1797
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Short stature, Flexion contracture, Scoliosis OMIM:278760
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Severe short stature, Hypoplasia of the odontoid process, Growth delay, Vertebral ... ORPHA:93314
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Phthisis bulbi, Macular hypoplasia, Leukoco... ORPHA:91495
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 c... OMIM:613239
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Cryptorchidism ORPHA:2471
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Kyphoscoliosis, Short neck, Generalized osteoporosis, Op... OMIM:184095
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Jaberi-Elahi Syndrome
Broad-based gait, Kyphosis, Failure to thrive, Inability to walk, Gait ataxia, Dysmetria, Appendi... OMIM:617988
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia OMIM:603472
Trisomy 13
Cataract, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the iris, Anoph... ORPHA:3378
Monomelic Amyotrophy
Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Cat-Eye Syndrome
Iris coloboma, Microphthalmia ORPHA:195
Lead Poisoning
Decreased male libido, Imbalanced hemoglobin synthesis, Abnormality of the menstrual cycle, Decre... ORPHA:330015
Congenital Rubella Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Corneal... ORPHA:290
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Gait ataxia, Tremor, Delayed puberty, Abdominal obesity, Short stat... OMIM:300354
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Severe short stature, Hip contracture, Knee flexion contracture, Thoracolumbar sco... OMIM:313420
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Alpha-Mannosidosis, Adult Form
Cataract, Osteopenia, Corneal opacity, Ataxia ORPHA:309288
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Carpal osteolysis, Peripheral opacification of the cornea, Metacarpal osteolysis, Met... OMIM:259600
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Myopathy, Centronuclear, 1
Mildly elevated creatine kinase, Hyperlordosis OMIM:160150
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613157
Parkinson-Dementia Syndrome
Tremor, Rigidity, Kyphoscoliosis, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Gm1 Gangliosidosis
Platyspondyly, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Oral ... ORPHA:354
Hypochondroplasia
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:429
Diencephalic Syndrome
Cachexia, Long penis, Decreased body weight ORPHA:1672
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Kyphoscoliosis, Loss of ambulatio... ORPHA:466722
Microphthalmia, Lenz Type
Cataract, Microcornea, Hypospadias, Cryptorchidism, Hyperlordosis, Microphthalmia, Scoliosis, Iri... ORPHA:568
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh... ORPHA:178148
Chronic Hiccup
Weight loss ORPHA:396
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Ataxia, Scoliosis, Kyphosis ORPHA:2047
Hypercalcemia, Infantile, 1
Hypercalcemia, Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive OMIM:143880
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:164180
Autosomal Recessive Spastic Paraplegia Type 23
Spastic paraplegia, Spastic gait, Kyphoscoliosis, Short stature, Waddling gait ORPHA:101003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Myoclonus, Limb muscle weakness, Tremor, Cachexia, Ataxia, Facial palsy ORPHA:97229
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Kyphosis, Abnormal form of ... ORPHA:1354
Saccharopinuria
Short stature, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Trichothiodystrophy 3, Photosensitive
Cataract, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Developmental cataract, Micro... OMIM:616395
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Hemivertebrae, Sacral dimple OMIM:619318
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,... ORPHA:363400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Myoclonus, Tremor, Lethargy, Dystonia, Small for gestational age, Choreoathetosis OMIM:312170
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Congenital Toxoplasmosis
Anemia, Failure to thrive in infancy, Thrombocytopenia, Microphthalmia ORPHA:858
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis ORPHA:369840
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Increased vertebral height, Cryptorchidism, Kyphoscoliosis, Hyperl... OMIM:616817
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Intrauterine growth retardation, Scoliosis, Kyphosis, Irregular... OMIM:234250
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Three M Syndrome 3
Increased vertebral height, Decreased body weight, Short neck, Hyperlordosis, Small for gestation... OMIM:614205
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Failure to thrive in infancy, Inability to walk, Obesity, Cam... OMIM:615547
Myopathy With Extrapyramidal Signs
Frequent falls, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function,... OMIM:615673
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Hand muscle atrophy, Ankle clonus... OMIM:211530
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Difficulty walking, Inability to walk, Intrauterine growth retard... OMIM:615356
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Oculo... OMIM:301041
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... OMIM:184100
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Impaire... OMIM:300623
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium OMIM:619339
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Isaacs Syndrome
Weight loss ORPHA:84142
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma OMIM:615145
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Hypospadias, Kyphosis, Fused cervica... ORPHA:2522
Meckel Syndrome, Type 8
Short neck, Ambiguous genitalia, Anophthalmia, Microphthalmia OMIM:613885
3-Methylglutaconic Aciduria, Type Viib
Cataract, Leukopenia, Neutropenia, Thrombocytopenia, Zonular cataract OMIM:616271
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Wilson Disease
Failure to thrive, Kayser-Fleischer ring, Abnormality of the menstrual cycle, Splenomegaly, Incre... ORPHA:905
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... ORPHA:101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Scoliosis, Hyperlordosis, Cryptorchidism OMIM:613156
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Hepatosplenomegaly, Oligozoospermia, Abnormal testis morphology, Anemia, Primary te... ORPHA:85450
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Scoliosis, Failure to thrive OMIM:255310
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Short neck, Zonular c... ORPHA:168577
Subaortic Stenosis-Short Stature Syndrome
Obesity, Short neck, Microphthalmia, Scoliosis, Kyphosis ORPHA:3191
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Back pain, Elevated circulating creatine kinase concentration OMIM:167320
Weill-Marchesani Syndrome 1
Cataract, Microspherophakia, Ectopia lentis, Spinal canal stenosis, Lumbar hyperlordosis, Shallow... OMIM:277600
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Abnormality of the uterus, Cryptorchidism, Anophthalmia, Abn... ORPHA:2470
Alexander Disease Type I
Cachexia, Scoliosis, Failure to thrive ORPHA:363717
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Spastic gait, Resting tremor, Gait ataxia, Hoffmann sign, Babinski sign, Gait... OMIM:601162
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor ... OMIM:614298
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Growth delay, Increased muscle glycogen content, ... ORPHA:502423
Micro Syndrome
Cataract, Microcornea, Hypoplastic labia minora, Cryptorchidism, Microphthalmia, Hypoplasia of pe... ORPHA:2510
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Developmental cataract, Mic... ORPHA:335
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Ovoid vertebral bodies ORPHA:63446
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Short stature, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Epiphyseal stippling, Short neck, Corneal opacity, ... ORPHA:584
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... ORPHA:273
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hepatosplenomegaly, Hypothyroidism, Reticulocyt... ORPHA:300298
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Sh... OMIM:614381
Deafness-Hypogonadism Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Sjogren-Larsson Syndrome
Thoracic kyphosis, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Kapur-Toriello Syndrome
Failure to thrive, Short neck, Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iri... ORPHA:2328
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Skeletal muscle hypertrophy, Difficulty walking, Kyphoscoliosis, C... OMIM:300280
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Intrauterine growth retardation, Skeletal muscle atrophy, Dysmetria OMIM:615578
Linear Verrucous Nevus Syndrome
Cataract, Iris coloboma, Abnormal cornea morphology, Reduced bone mineral density, Hypophosphatem... ORPHA:2611
Cataract 48
Cataract OMIM:618415
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Gait ataxia, Gait disturbance, Flexion contracture of finger, Ataxia, Camptod... ORPHA:88628
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Intrauterine growth retardation, Dysmetria, Tremor, Limb hypertonia, Hyp... OMIM:617710
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Spina bifida occulta... OMIM:618060
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Peters anomaly, Microphthalmia OMIM:618652
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Elevated circulating creatinine concentration, Osteopetrosis, Increased bone ... OMIM:620366
Warburg Micro Syndrome 4
Small scrotum, Microcornea, Decreased testicular size, Cryptorchidism, Developmental cataract, Mi... OMIM:615663
Warburg Micro Syndrome 2
Cataract, Microcornea, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Developmental cat... OMIM:614225
Lcat Deficiency
Corneal opacity, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, De... ORPHA:650
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Scoliosis, Sutural cataract, Failure to thrive OMIM:201470
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Elevated circulating creatine kinase concentration ORPHA:1933
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Tremor, Steppage gait, Gait disturbance, Abnormal calf musculature morphology... ORPHA:206594
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Distal Deletion 6P
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Vertebral segmentation defect,... ORPHA:96125
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive ORPHA:178029
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Sacral dimple ORPHA:1643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Gait disturbance, Short stature, Overweight, Upper limb spasticity ORPHA:457240
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... ORPHA:52368
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration, Spinal rigidity ORPHA:86812
Congenital Myopathy 22A, Classic
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in lowe... OMIM:620351
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Inability to walk, Limb muscle weakness, Facial diplegia, Tremor, Limb t... OMIM:218000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:611588
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Thoracic kyphosis, Hyperactivity, Ataxia, Scoliosis, Motor stereotypy, ... ORPHA:530983
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Cataract, Anisospondyly, Short neck, Microphthalmia, Ovoid vertebral bodies, Thora... ORPHA:163649
Histiocytoid Cardiomyopathy
Failure to thrive, Megalocornea, Congenital aphakia, Polycystic ovaries, Corneal opacity, Microph... ORPHA:137675
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polydipsia OMIM:619468
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia, Tremor, Hemiverteb... ORPHA:370079
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Hypospadias, Peters anomaly, Astigmatism, Cryptorchidism, Microphthalmia, Scoliosis ORPHA:494344
Fish-Eye Disease
Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Severe short stature, Hypoplasia of the odontoid process, Caudal ap... OMIM:156530
Attrv30M Amyloidosis
Weight loss, Impotence ORPHA:85447
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia ORPHA:529665
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia,... ORPHA:282166
Microphthalmia/Coloboma 12
Optic nerve aplasia, Peters anomaly, Corneal opacity, Microphthalmia OMIM:120200
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Vertebral hypoplasia, Butterfly vertebrae, Anophthalmia, Cryptorch... OMIM:206900
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Unilateral microphthalmos, Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, ... OMIM:314580
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Cryptorchidism, Short neck, Hypoplastic labia majora, Microphthalmia, Mi... OMIM:244300
Seckel Syndrome 2
Hypospadias, Small for gestational age, Microphthalmia OMIM:606744
Mulibrey Nanism
Cachexia ORPHA:2576
Peritoneal Cystic Mesothelioma
Weight loss, Dyspareunia, Metrorrhagia, Menorrhagia ORPHA:168816
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Lumbar hyperlordosis, Astigmatism, Cryptorchidism, Lumbar scoliosis, Ce... OMIM:617796
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Reticular Dysgenesis
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils ORPHA:33355
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Cataract, Failure to thrive, Microphthalmia OMIM:612379
Baraitser-Winter Syndrome 1
Failure to thrive, Cryptorchidism, Short neck, Microphthalmia, Micropenis, Iris coloboma OMIM:243310
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Splenomegaly ORPHA:100024
Spondyloepiphyseal Dysplasia Tarda
Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste... ORPHA:93284
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating ... ORPHA:98794
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Cataract, Microcornea, Cervical kyphosis, Decreased testicular size, Lumbar hyperl... OMIM:255800
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Three M Syndrome 1
Decreased testicular size, Increased vertebral height, Short neck, Hyperlordosis, Spina bifida oc... OMIM:273750
Cockayne Syndrome Type 2
Difficulty walking, Intrauterine growth retardation, Gait disturbance, Lower limb spasticity, Lim... ORPHA:90322
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Iris coloboma, Cryptorchidism, Microphthalmia, Vaginal atresia, Septo-opti... ORPHA:3301
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Decreased body weight, Microphthalmia, Iris transillumination defect OMIM:617306
Congenital Myopathy 10B, Mild Variant
Abnormal circulating creatine kinase concentration, Elevated circulating creatine kinase concentr... OMIM:620249
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Craniosynostosis, Opacification of the corneal st... OMIM:601853
Schimke Immunoosseous Dysplasia
Platyspondyly, Bilateral cryptorchidism, Lymphopenia, Lumbar hyperlordosis, Pancytopenia, Abnorma... OMIM:242900
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Temtamy Syndrome
Iris coloboma, Microphthalmia ORPHA:1777
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Ring Chromosome 10 Syndrome
Short neck, Cachexia, Microphthalmia ORPHA:1438
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Distal arthrogryposis, Hypertonia, Congenital finger flexion... OMIM:108145
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Hyponatremia... ORPHA:171876
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Cryptorchidism, Punctate cat... OMIM:607812
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Sponastrime Dysplasia
Platyspondyly, Cataract, Hypospadias, Precocious puberty, Abnormality of the vertebral column, Lu... ORPHA:93357
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Metatropic Dysplasia
Severe short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camp... ORPHA:2635
Graves Disease
Weight loss, Increased circulating free T4 concentration, Decreased thyroid-stimulating hormone l... OMIM:275000
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:253700
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Sandestig-Stefanova Syndrome
Short neck, Small for gestational age, Developmental cataract, Microphthalmia OMIM:618804
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Cataract, Scoliosis, Craniofacial hyperostosis, Abnormal form of the ve... ORPHA:581
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:252605
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Wagro Syndrome
Cataract, Aniridia, Polyphagia, Aggressive behavior, Corneal opacity, Compulsive behaviors, Agita... OMIM:612469
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma ORPHA:1791
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Failure to thrive, Hypopituitarism, Sideroblastic anemia, Microcytic anemia, ... OMIM:600462
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Astigmatism, Decreased HDL cholesterol concentra... OMIM:618885
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Spinal canal stenosis, Lumbar hyperlordosis, Astigma... OMIM:608328
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:353
Renpenning Syndrome
Cataract, Iris coloboma, Decreased testicular size, Cachexia, Hypospadias ORPHA:3242
Tyrosinemia Type 2
Corneal opacity, Ataxia ORPHA:28378
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Testicular neoplasm, Anemia, Ovarian neoplasm, Neoplasm of the pancreas ORPHA:83469
Fanconi Anemia, Complementation Group S
Failure to thrive, Ovarian carcinoma, Microphthalmia, Anemia, Ovarian neoplasm OMIM:617883
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Oculoskeletodental Syndrome
Scoliosis, Hyperlordosis, Developmental cataract, Thoracic kyphosis ORPHA:557003
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Corneal opacity, Ataxia OMIM:272200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:435387
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
3Q29 Microduplication Syndrome
Cataract, Aniridia, Obesity, Short neck, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hyperlo... ORPHA:3130
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Astigmatism, Hypocalcemia, Corneal opacity, Spinal cana... ORPHA:2323
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Limb hypertonia, Joint contracture, ... ORPHA:35708
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Self-mutilation, Recurrent corneal erosions, Hyperactivity, Opacific... OMIM:256800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Progressive gait ataxia... OMIM:606002
Congenital Sialidosis Type 2
Ataxia, Cataract, Dysmetria, Developmental cataract, Corneal opacity ORPHA:93400
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Lumbar hyperlordosis, Microphthalmia, Optic ... ORPHA:370959
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Scoliosis, Microphthalmia OMIM:615249
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Vertebral segmentation defect, Hypertonia, Scoliosis, Kyphosis ORPHA:2617
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Osteopenia, Developmental cataract, Corneal opacity OMIM:616603
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia OMIM:179800
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Vertebral wedging, Hyperconvex vertebral body endplates, Beaking of vertebral bodi... ORPHA:1159
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Kyphosis, Generalized dystonia, Difficulty walking, Foot dorsiflexor weakness... ORPHA:171629
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Proximal amyotrophy, Facial pa... OMIM:615084
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Martsolf Syndrome 1
Cataract, Lumbar hyperlordosis, Cryptorchidism, Thoracic scoliosis, Hypogonadotropic hypogonadism... OMIM:212720
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... ORPHA:103910
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Cryptorchidism, Short neck, Corneal opacity, Scl... ORPHA:284160
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Obesity, Tremor, Short neck, Cachexia, Short stature, ... ORPHA:85293
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia OMIM:218340
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Recurrent corneal erosions, Increased blood urea n... OMIM:223900
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Microphth... OMIM:227650
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Inability to walk, Obesity, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Short sta... OMIM:618443
Huntington Disease-Like 2
Weight loss OMIM:606438
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis OMIM:184250
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:353327
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclero... OMIM:615877
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Astigmatism, Decreased body weight, Short ... OMIM:609053
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Microcornea, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:2505
Scheie Syndrome
Short neck, Spondylolisthesis, Corneal opacity OMIM:607016
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the... OMIM:130060
Tay-Sachs Disease
Skeletal muscle atrophy, Decerebrate rigidity, Lower limb muscle weakness, Laryngeal dystonia, In... ORPHA:845
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Anophthalmia, Cryptorchidism, Microphthalmia... ORPHA:2250
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial m... ORPHA:352447
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
19Q13.11 Microdeletion Syndrome
Cataract, Microcornea, Failure to thrive, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Ca... ORPHA:217346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Death in infancy, Microphthalmia, Buphthalmos, Persistent pupillary mem... OMIM:613150
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Moebius Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Short neck, Microphthalmia, Micropenis OMIM:157900
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Growth delay, Lumbar hyperlordosis, Short neck, Disproportionate short-t... ORPHA:94068
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Spondylolisthesis, Decreased corneal thickness, Scoliosi... OMIM:229200
Congenital Disorder Of Deglycosylation 1
Scoliosis, Restlessness, Oral-pharyngeal dysphagia, Dysmetria, Hyperalaninemia, Impaired orophary... OMIM:615273
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Rickets OMIM:615605
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Astigmatism, Elevated circulating creatine kinase concentration, Corneal opa... OMIM:301056
Thoracomelic Dysplasia
Short neck, Hyperlordosis ORPHA:1803
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Desbuquois Dysplasia 1
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Developmental glaucoma OMIM:251450
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
4Q21 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Tremor, Short neck, Scoliosis, Kyphosis ORPHA:238750
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Bilateral microphthalmos, Failure to thrive in infancy, Deat... OMIM:610758
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia ORPHA:228390
Angelman Syndrome
Self-injurious behavior, Keratoconus, Broad-based gait, Iris hypopigmentation, Inability to walk,... ORPHA:72
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Abnormality of the vertebral column, Hyperlordosis ORPHA:52430
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Failure to thrive, Tremor, Myopathy, Unsteady gait, Dystonia... OMIM:615512
Hurler Syndrome
Hypoplasia of the odontoid process, Cranial hyperostosis, Calvarial hyperostosis, Biconcave verte... OMIM:607014
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Lowry-Maclean Syndrome
Osteopenia, Megalocornea, Corneal opacity, Osteoporosis, Craniosynostosis, Developmental glaucoma ORPHA:2409
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism, Weight loss, Parkinso... ORPHA:411602
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Clitoral hypertrophy, Hypospadias, Microphthalmia, Scoliosis, Kyphosis OMIM:616449
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hyperlor... OMIM:613327
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Kyphoscoliosis, Corneal opacity OMIM:163200
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased pla... OMIM:608836
Ritscher-Schinzel Syndrome 3
Death in infancy, Cryptorchidism, Poorly ossified vertebrae, Microphthalmia OMIM:619135
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Hypotriglyceridemia, Ectopia pupillae, Corneal opacity, Lens subluxation, Scoliosi... ORPHA:85167
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... ORPHA:750
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca ORPHA:411777
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Microphthalmia, Leukemia, T... OMIM:600901
Incontinentia Pigmenti
Cataract, Keratitis, Attention deficit hyperactivity disorder, Gait disturbance, Corneal opacity,... ORPHA:464
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Lumbar hype... ORPHA:2232
Zimmermann-Laband Syndrome 2
Short stature, Macroglossia, Short neck, Kyphosis OMIM:616455
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:619451
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Slender build, Myoclonus, Facial hypotonia, Babinski sign, Short stature, Abnormality... ORPHA:364028
Walker-Warburg Syndrome
Cataract, Microcornea, Anophthalmia, Cryptorchidism, Corneal opacity, Microphthalmia, Hypoplasia ... ORPHA:899
Frontorhiny
Cataract, Iris coloboma, Hypopituitarism, Lumbar hyperlordosis, Microphthalmia, Scoliosis ORPHA:391474
Aceruloplasminemia
Blepharospasm, Involuntary movements, Akinesia, Limb ataxia, Gait ataxia, Chorea, Tremor, Rigidit... ORPHA:48818
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Abnormal sacroiliac joint morphology, Weight loss, Elevated circul... ORPHA:324964
Lateral Meningocele Syndrome
Iris coloboma, Abnormal form of the vertebral bodies, Cryptorchidism, Short neck, Hyperlordosis, ... ORPHA:2789
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
8P11.2 Deletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorchidism, Spleno... ORPHA:251066
Cahmr Syndrome
Lamellar cataract OMIM:211770
15Q24 Microdeletion Syndrome
Kyphosis, Failure to thrive, Postnatal growth retardation, Obesity, Congenital diaphragmatic hern... ORPHA:94065
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Short neck, Microphthalmia, Micropenis, Scoliosis, Kyphosis OMIM:248700
Three M Syndrome 2
Short neck, Small for gestational age, Hyperlordosis, Lumbar hyperlordosis OMIM:612921
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Elbow flexion contracture, Obesity, Hip contracture, Short stature, Unsteady g... OMIM:618493
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Microcornea, Female infertility, Amenorrhea, Microphthalmia, Increased ci... OMIM:110100
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Knobloch Syndrome 1
Band keratopathy, Macular hypoplasia, Phthisis bulbi, Iris transillumination defect, Cortical cat... OMIM:267750
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Myopathy, Myofibrillar, 7
Spinal rigidity, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scolio... OMIM:617114
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ... OMIM:609616
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Opacification of the corneal stroma OMIM:601356
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Tremor, Ataxia ORPHA:713
Alexander Disease
Spasticity, Failure to thrive, Chorea, Tremor, Short neck, Gait disturbance, Abnormal pyramidal s... ORPHA:58
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Short stature, Macroglossia, Scoliosis, Kyphosis ORPHA:79107
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia, Hypergonadotropic hypogonadism ORPHA:298
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Stillbirth, Microphthalmia, Sclerocornea... OMIM:243605
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Microphthalmia ORPHA:261272
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Squared-off platyspon... ORPHA:93352
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Abnormal thoracic spine morphology... ORPHA:370348
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Hypogonadism, Death in infancy, Keratoconjunctivitis sicca, Microphthalmia... OMIM:601675
3Mc Syndrome
Caudal appendage, Bilateral cryptorchidism, Supernumerary nipple, Prominent coccyx, Abnormal ante... ORPHA:293843
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Microphthalmia OMIM:602501
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Short neck, Cachexia, Scoliosis OMIM:616801
Fanconi Anemia, Complementation Group F
Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test, Leukopeni... OMIM:603467
Baraitser-Winter Syndrome 2
Short neck, Microphthalmia OMIM:614583
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Failure to thrive, Punctate vertebral calcifications, Kyphoscoliosis, Short neck, Hemiv... OMIM:302960
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Decreased body weight, Short neck, Hyperlordosis OMIM:615222
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bruck Syndrome
Platyspondyly, Short stature, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis ORPHA:2771
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Pelvis-Shoulder Dysplasia
Microcornea, Abnormal form of the vertebral bodies, Bilateral microphthalmos, Lumbar hyperlordosi... ORPHA:2839
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis, Corneal opacity ORPHA:349
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Tremor, Fat... ORPHA:397744
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
3M Syndrome
Hypospadias, Increased vertebral height, Decreased fertility, Short neck, Hyperlordosis, Scoliosi... ORPHA:2616
Angelman Syndrome
Broad-based gait, Progressive gait ataxia, Hyperactivity, Blue irides, Ataxia, Scoliosis, Paroxys... OMIM:105830
Al-Gazali Syndrome
Sclerocornea, Osteopenia, Corneal opacity OMIM:609465
Fanconi Anemia, Complementation Group C
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Microphthalmia, Leukemia, T... OMIM:227645
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... ORPHA:99027
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia ORPHA:2399
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Hypoplastic cervical vertebrae, Kyphoscoliosis, Microphthalmia, Abnormally... ORPHA:35173
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Crisponi Syndrome
Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Obesity, Irregular vertebral ... ORPHA:174
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2831
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Hyperlipidemia, Short neck, Corneal opacity, Ovoid vertebral... ORPHA:1830
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis, Short neck, Thoracolumbar scoliosis, Scoliosis OMIM:114300
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Scoliosis, Iris coloboma ORPHA:2712
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Cataract OMIM:614376
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:619719
Schwartz-Jampel Syndrome
Platyspondyly, Cataract, Microcornea, Ectopia lentis, Decreased testicular size, Abnormally ossif... ORPHA:800
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Cataract, Biconcave vertebral bodies, Iris atrophy, Kyphoscoliosis, Phthisis bulbi... OMIM:259770
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis, Cryptorchidism, Microphthalmia ORPHA:404440
Braddock-Carey Syndrome 2
Thrombocytopenia, Microphthalmia OMIM:619981
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Abnormality of the cervical spine, Attention deficit hyperactivity disorder, Gait di... ORPHA:464311
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Joint contracture of the 5th finger, Short stature, Scoliosis, Kyphosis ORPHA:1883
Phace Syndrome
Cataract, Ectopic thyroid, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iri... ORPHA:42775
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Disproportionate sho... OMIM:177170
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Tremor, Low back pain, Babinski sign, Abnormal pyramidal sign, Spastic gait, Spastic dysar... ORPHA:447753
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia ORPHA:683
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Cataract, Iris hypopigmentation, Ocular albinism, Corneal opacity, Athetosis ORPHA:2719
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
Microphthalmia With Limb Anomalies
Failure to thrive, Anophthalmia, Microphthalmia, Unilateral cryptorchidism, Sacral dimple OMIM:206920
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis OMIM:151800
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Tremor, Rigidity, Dystonia, Babinski ... OMIM:234200
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Limb muscle weakness, Myopathy, Hypomimic face, Ataxia, Bradykinesia, Quadriceps ... ORPHA:254892
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Short neck OMIM:608104
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Inability to walk, Short neck, Corneal opacity, Osteopo... ORPHA:488632
Parkinson Disease 21
Bradykinesia, Parkinsonism, Tremor, Rigidity OMIM:616361
Solitary Fibrous Tumor
Hypophosphatemic rickets, Low back pain, Weight loss, Reduced C-peptide level, Hypoinsulinemia ORPHA:2126
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... ORPHA:247585
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Foot dorsiflexor weakness, Mild short stature, Lower limb hypertonia OMIM:169400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Scoliosis, Cryptorchidism, Microphthalmia OMIM:618494
Hurler-Scheie Syndrome
Scoliosis, Kyphosis, Corneal opacity OMIM:607015
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Optic nerve hypoplasia, Microphthalmia OMIM:614833
Hypochondroplasia
Lumbar hyperlordosis, Widened interpedicular distance OMIM:146000
Pleural Mesothelioma
Weight loss ORPHA:50251
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Weight loss, Abnormal testis morphology ORPHA:54251
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Ataxia ORPHA:324737
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Cataract, Ataxia, Osteopenia, Cranial hyperostosis, Astigmatism, Short neck, Corne... ORPHA:309282
Follicular Lymphoma
Weight loss ORPHA:545
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula... OMIM:101000
Bone Dysplasia, Lethal Holmgren Type
Anemia, Short neck, Weight loss, Failure to thrive ORPHA:1842
Zellweger Syndrome
Cataract, Epiphyseal stippling, Posterior embryotoxon, Corneal opacity, Brushfield spots ORPHA:912
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis, Failure to thrive OMIM:300986
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Elbow flexion contracture, Kyph... ORPHA:93360
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Abnormal cornea morphology, Polydipsia, Corneal crystals, Elevated c... ORPHA:411634
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Postnatal growth retardation, Intrauterine growth retardation, Gait imbalance, Tremor... OMIM:300966
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Spinal can... ORPHA:15
Hydrolethalus
Abnormal fallopian tube morphology, Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:2189
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Short neck, Microphthalmia, Scoliosis OMIM:618571
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Ovotestis, Chordee, Micropenis, Micr... OMIM:309801
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:310200
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Cryptorchidism, Short neck, Micropenis, Microphthalmia, Sclerocornea OMIM:614230
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Rhizomelic arm shortening, Postnatal growth re... OMIM:223800
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
De Barsy Syndrome
Cataract, Osteopenia, Kyphoscoliosis, Corneal opacity, Athetosis, Progressive cerebellar ataxia ORPHA:2962
Vacterl With Hydrocephalus
Microcornea, Absence of the sacrum, Abnormal form of the vertebral bodies, Anophthalmia, Cryptorc... ORPHA:3412
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Failure to thrive, Cryptorchidism, Microphthalmia, Scoliosis ORPHA:250989
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Abnormality of the cervical spine, Gait disturbance, Hyperactivity, Corneal opacity,... ORPHA:464306
Cohen Syndrome
Iris coloboma, Failure to thrive in infancy, Obesity, Cryptorchidism, Neutropenia, Microphthalmia... ORPHA:193
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Short neck, Short stature, Kyphosis, Flexion contracture of toe ORPHA:3409
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
3Q29 Microdeletion Syndrome
Cataract, Failure to thrive, Six lumbar vertebrae, Microphthalmia, Hypospadias ORPHA:65286
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Intrauterine growth retardation, ... ORPHA:2311
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Ectopia pupillae, Severe platyspondyly, Corneal opacity, Lens subluxation, Scolios... OMIM:608940
Silver-Russell Syndrome
Precocious puberty, Abnormal male external genitalia morphology, Abnormal vagina morphology, Fail... ORPHA:813
Joubert Syndrome 22
Microphthalmia OMIM:615665
Fanconi Anemia, Complementation Group R
Anemia, Scoliosis, Microphthalmia OMIM:617244
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight loss, Thrombocytop... ORPHA:507
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Abnormal circulating lipid concentration, Hyperlipoproteinemia ORPHA:1979
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Failure to thrive, Corneal scarring, Cryptorchidism, Dense posterior cortical cata... OMIM:309000
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Hand muscle weakness, Fasciculations, Tremor, Intrinsic hand muscle a... ORPHA:99965
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Sclerocornea, Limbal dermoid OMIM:613001
Jacobsen Syndrome
Hypospadias, Microcornea, Annular pancreas, Failure to thrive, Cryptorchidism, Macular hypoplasia... OMIM:147791
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Keratoconjunctiv... ORPHA:495875
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Death in infancy, Microphthalmia ORPHA:163966
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Intrauterine growth retardation, Paroxysmal dystonia, Limb hypertonia, Spastic tetraplegia OMIM:619909
Cohen Syndrome
Decreased response to growth hormone stimulation test, Lumbar hyperlordosis, Leukopenia, Thoracic... OMIM:216550
Monosomy 18P
Short neck, Kyphoscoliosis, Microphthalmia ORPHA:1598
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Tangier Disease
Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decreased circulati... OMIM:205400
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Narrow vertebral interpedicula... OMIM:602557
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Hyperlordosis ORPHA:3068
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short neck, Ocular anterior segment dysgenesis, Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Ataxia, Athetosis ORPHA:52503
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Failure to thrive, Azoospermia, Cryptorchidism, Weight... ORPHA:361
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Tremor, Lethargy, Ataxia, Short stature OMIM:201100
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Congenital Tufting Enteropathy
Cataract, Failure to thrive, Punctate keratitis, Weight loss, Corneal erosion ORPHA:92050
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Huntington Disease
Weight loss, Decreased body mass index, Abnormal libido ORPHA:399
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Posterior subcapsular cataract, Decreased response to growth hormone stimulation test, Lumbar hyp... OMIM:619234
Cronkhite-Canada Syndrome
Anemia, Cataract, Cachexia, Splenomegaly ORPHA:2930
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Short neck, Abn... ORPHA:99776
Diastrophic Dysplasia
Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral... ORPHA:628
Pfapa Syndrome
Weight loss ORPHA:42642
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Kyphosis, Spondylolisthesis, Craniosynostosis, Opacification... OMIM:252600
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3218
Thymic Neuroendocrine Tumor
Increased circulating ACTH level, Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Renal Nutcracker Syndrome
Varicocele, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Anemia, Infertility ORPHA:71273
Ruvalcaba Syndrome
Short stature, Delayed puberty, Scoliosis, Kyphosis OMIM:180870
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Kenny-Caffey Syndrome, Type 2
Anemia, Developmental cataract, Microphthalmia, Hypoparathyroidism, Small for gestational age OMIM:127000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Coronal cleft vertebrae, Butterfly vertebrae, Hyperlordosis OMIM:618870
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Failure to thrive, Unilateral microphthalmos, Macroorchidism, Hypospadias OMIM:618874
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Gait disturbance, Short stature, Flexion contracture, Overweight, Scoliosis, K... ORPHA:500055
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Abnormal form of the vertebral bodies, Short neck, Short stature, Kyphosis ORPHA:3098
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss ORPHA:3165
Xfe Progeroid Syndrome
Failure to thrive, Corneal scarring, Death in adolescence, Cachexia, Premature ovarian insufficie... OMIM:610965
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Cataract, Microphthalmia OMIM:610651
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis ORPHA:47
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Vertebral segmentation defect, Microphthalmia, Scoliosis OMIM:612530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenos... OMIM:616007
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates OMIM:156500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod... ORPHA:2916
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Vertebral segmentation defect ORPHA:1323
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Decreased fertility, Microphthalmia OMIM:234050
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Hallermann-Streiff Syndrome
Cataract, Iris coloboma, Cryptorchidism, Hyperlordosis, Microphthalmia, Scoliosis, Small for gest... OMIM:234100
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:614251
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Decreased plasma total carnitine, Hyperammonemia, Elevated circulating creatine kinase ... ORPHA:42
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Multiple carpal ossification ce... OMIM:150250
Marfan Syndrome
Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Hypoplasia of t... OMIM:154700
Coenzyme Q10 Deficiency, Primary, 1
Myoclonus, Ragged-red muscle fibers, Tremor, Loss of ambulation, Decreased level of coenzyme Q10 ... OMIM:607426
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Difficulty walking, Rig... OMIM:618476
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Fanconi Anemia
Cataract, Hypospadias, Abnormality of the uterus, Hypogonadism, Azoospermia, Leukopenia, Aplasia/... ORPHA:84
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Decreased serum insulin-like growth factor 1, Hyperlordosis, Ov... ORPHA:763
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Platyspondyly, Posterior subcapsular cataract, Scoliosis, Congenit... ORPHA:536471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Spina b... OMIM:618291
Joubert Syndrome
Abnormal form of the vertebral bodies, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia, Scol... ORPHA:475
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss ORPHA:2221
Bosma Arhinia Microphthalmia Syndrome
Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Micropenis, Pr... OMIM:603457
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Vertebral wedging, Ovarian carcinoma, Kyphoscoliosis, Ovarian fibroma, H... OMIM:109400
Ring Chromosome 12 Syndrome
Glandular hypospadias, Breast hypoplasia, Lumbar hyperlordosis, Cryptorchidism, Small for gestati... ORPHA:1439
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Anterior lenticonus, Uterine neoplasm, Keratitis, Failure to thrive, Vaginal neoplasm, ... ORPHA:1018
Incontinentia Pigmenti
Cataract, Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Kypho... OMIM:308300
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Vertebral compressi... ORPHA:29073
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Dystonia, Athetosis, Scoliosis, Kyphosis OMIM:613454
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Generalized bone demineralization OMIM:215250
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Platyspondyly, Abnormal circulating osteocalcin level, Vertebral w... ORPHA:93315
Monosomy 9Q22.3
Cataract, Abnormality of the vertebral column, Large for gestational age, Short neck, Ovarian fib... ORPHA:77301
Christianson Syndrome
Cachexia, Death in early adulthood ORPHA:85278
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Irregular menstruation, Lumbar hyperlordosis, Neonatal death, Kyphosis, Uterine le... OMIM:616482
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Death in childhood, Hypoplasia... OMIM:609049
Bloom Syndrome
Azoospermia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-positive T ... ORPHA:125
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Myotonia Permanens
Hyperlordosis ORPHA:99735
Cockayne Syndrome B
Microcornea, Small for gestational age, Failure to thrive, Hypoplasia of the iris, Cryptorchidism... OMIM:133540
Curry-Jones Syndrome
Iris coloboma, Microphthalmia ORPHA:1553
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... OMIM:612716
Cockayne Syndrome Type 1
Foot joint contracture, Failure to thrive, Difficulty walking, Postnatal growth retardation, Trem... ORPHA:90321
Ataxia-Telangiectasia
Dysdiadochokinesis, Failure to thrive, Inability to walk, Myoclonus, Intention tremor, Tremor, De... OMIM:208900
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Kyphosis, Sacral dimple OMIM:618272
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Decreased body weight, Shawl scrotum, Microphthalmia, Micropenis, ... OMIM:300895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Microphthalmia OMIM:300863
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Astigmatism, Microphthalmia OMIM:618727
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Short neck, Coronal cleft ver... ORPHA:1427
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Elevated circulating calcitonin concentration, Scoli... OMIM:162300
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Mucopolysaccharidosis, Type X
Platyspondyly, Beaking of vertebral bodies, Hyperlordosis, Scoliosis, Posterior scalloping of ver... OMIM:619698
Stevenson-Carey Syndrome
Scoliosis, Microphthalmia OMIM:611961
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Cataract 49
Posterior cortical cataract OMIM:619593
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio... ORPHA:67036
Osteogenesis Imperfecta
Ataxia, Osteopenia, Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral ... ORPHA:666
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Cryptorchi... ORPHA:564
Clark-Baraitser syndrome
Obesity, Scoliosis, Kyphosis OMIM:300602
Mosaic Trisomy 8
Vertebral segmentation defect, Short neck, Scoliosis, Corneal opacity ORPHA:96061
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Short neck, Cachexia, Scoliosis ORPHA:371364
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol... ORPHA:425
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia ORPHA:2828
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty wa... OMIM:164310
Igg4-Related Aortitis
Low back pain, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:449400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Self-injurious behavior, Cataract, Lentiglobus, Platyspondyly, Osteomalacia, Abnor... ORPHA:534
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Microcornea, Cholelithiasis, Male urethral meatus stenosis, Developmental cataract, ... ORPHA:464738
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Mend Syndrome
Cataract, Failure to thrive, Cryptorchidism, Microphthalmia, Kyphosis, Sacral dimple ORPHA:401973
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... OMIM:601104
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Cataract, Scoliosis, Hyperlordosis ORPHA:2780
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Metrorrhagia, Weight loss, Neutropenia, Thrombocytopenia,... ORPHA:520
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Garg-Mishra Progeroid Syndrome
Platyspondyly, Ovoid vertebral bodies, Microphthalmia OMIM:620601
Refsum Disease
Cataract, Splenomegaly, Microphthalmia ORPHA:773
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Spasticity, Postnatal growth retardation, Intrauterine growth retardation, Hemiplegia, Tremor, Ab... OMIM:612199
Mucopolysaccharidosis Type 1
Scoliosis, Abnormal form of the vertebral bodies, Spinal canal stenosis, Corneal opacity ORPHA:579
Papillorenal Syndrome
Elevated circulating creatinine concentration, Scoliosis, Lens luxation, Cataract OMIM:120330
Thanatophoric Dysplasia
Platyspondyly, Disproportionate short-limb short stature, Intrauterine growth retardation, Abnorm... ORPHA:2655
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Weight loss, Thrombocytopenia ORPHA:79242
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the vertebral column, Splenic cyst, Ovarian cyst, ... ORPHA:400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Disproportionate short stature, Cervi... ORPHA:508533
Fucosidosis
Anterior beaking of thoracic vertebrae, Failure to thrive, Cervical platyspondyly, Tortuosity of ... OMIM:230000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Cryptorchidism, Corneal opacity, Microphthalmia, Buphthal... OMIM:236670
Emanuel Syndrome
Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic hernia, Torticollis,... OMIM:609029
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Failure to thrive ORPHA:95427
Atelis Syndrome 2
Developmental cataract, Microphthalmia, Anemia, Thrombocytopenia, Kyphosis, Sacral dimple OMIM:620185
2P15P16.1 Microdeletion Syndrome
Growth delay, Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Gait d... ORPHA:261349
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intention tremor, Dysmetria, Knee flexion contracture, Head titubation, Ataxia, Dystonia, Kyphosis OMIM:619708
Adams-Oliver Syndrome
Cataract, Failure to thrive, Leukopenia, Thrombocytopenia, Microphthalmia ORPHA:974
Aredyld Syndrome
Cachexia, Scoliosis ORPHA:1133
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Microphthalmia ORPHA:2728
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Anterior wedging of L1, Lumbar hyperlordosis, Anterior wedgin... OMIM:253200
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Failure to thrive, Microphthalmia, Persistent pupillary membrane OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Death in childhood, Death in infancy, Microphthalmia, Optic nerve hypop... OMIM:614643
Mucopolysaccharidosis Type 6
Failure to thrive, Short neck, Disproportionate short-trunk short stature, Macroglossia, Kyphosis... ORPHA:583
Hurler Syndrome
Abnormal vertebral morphology, Spinal canal stenosis, Short neck, Corneal opacity, Scoliosis ORPHA:93473
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Lumbar hyperlordosis, Cryptorchidism, Short neck, Micropenis, Small for gestationa... OMIM:609625
Arthrogryposis, Distal, Type 5D
Short neck, Hypoplastic labia majora, Scoliosis, Hyperlordosis OMIM:615065
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Failure to thrive, Abnormally o... ORPHA:175
Scheie Syndrome
Corneal opacity ORPHA:93474
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Obesity, Astigmatism, Cryptorchidism, Hyperlordosis OMIM:616078
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Failure to thrive, Dysmetria, Tremor, Neck hypertonia, Opi... ORPHA:2203
Multiple Sulfatase Deficiency
Cataract, Corneal opacity ORPHA:585
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Gm1-Gangliosidosis, Type I
Severe short stature, Intrauterine growth retardation, Hypoplastic vertebral bodies, Short neck, ... OMIM:230500
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Short neck, Ocular anterior segment dysg... OMIM:612582
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... OMIM:265000
Braddock-Carey Syndrome 1
Hyperlordosis, Thrombocytopenia OMIM:619980
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Scoliosis, Kyphosis OMIM:615381
Liposarcoma
Weight loss ORPHA:69078
Huntington Disease-Like 1
Weight loss ORPHA:157941
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Failure to thrive, Nuclear pulverulent cataract, Short neck, Sutural cataract, Truncal ... OMIM:612474
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Osteoporosis, Osteolytic defects of the distal phalanges ... OMIM:601812
Farber Disease
Osteoporosis, Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Argininemia
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Spastic gait, Diaminoaciduria OMIM:207800
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia ORPHA:2070
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Gait ataxia, Tremor, Scoliosis, Kyphosis ORPHA:476126
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia ORPHA:514
2Q31.1 Microdeletion Syndrome
Iris coloboma, Cryptorchidism, Vertebral segmentation defect, Short neck, Microphthalmia, Scolios... ORPHA:251014
Bethlem Muscular Dystrophy
Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration, Spinal rigidity ORPHA:610
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cataract, Opacification of the corneal stroma, Epiphyseal stippling, Loss of ambul... OMIM:214100
Thymic Carcinoma
Weight loss ORPHA:99868
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Abnormality o... ORPHA:90794
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Thoracic kyphoscoliosis, Increased vertebral height, Lumbar hyperlo... OMIM:613385
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Failure to thrive, Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Fabry Disease
Cataract, Abnormal circulating lipid concentration, Anorexia, Hyperlipidemia, Conjunctival telang... ORPHA:324
Treacher-Collins Syndrome
Cataract, Small scrotum, Abnormality of the vertebral column, Failure to thrive, Cryptorchidism, ... ORPHA:861
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Scoliosis ORPHA:50814
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Abnormal epiphyseal ossification, Aggres... ORPHA:580
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Gait disturbance, Hypertonia, Sho... ORPHA:192
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Sclerotic vertebral en... ORPHA:2905
Osteosarcoma
Weight loss ORPHA:668
Takayasu Arteritis
Anemia, Weight loss ORPHA:3287
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Cap Polyposis
Weight loss ORPHA:160148
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Atlantoaxial dislocation, Hypoplasia of the odontoid process... OMIM:252500
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Microphthalmia, Hypospadias, Small for ... OMIM:619148
Fanconi Anemia, Complementation Group D2
Annular pancreas, Leukemia, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia,... OMIM:227646
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Acute Adrenal Insufficiency
Failure to thrive, Increased circulating ACTH level, Hyperuricemia, Hyponatremia, Decreased circu... ORPHA:95409
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Weight loss ORPHA:1332
Neuroocular Syndrome 1
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Micro... OMIM:619539
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Posterior subcapsular cataract, Lumbar hyperlordosis, Biconcave vertebral bodies, ... OMIM:271510
Tetrasomy 12P
Short neck, Cachexia ORPHA:884
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Dysmetria, Hyperactivity, Bradykinesia, Dysphagia, Dysdiadochokinesis, Impulsivity OMIM:610217
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis ORPHA:169186
Chronic Beryllium Disease
Weight loss ORPHA:133
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Microcornea, Short neck, Sagittal craniosy... OMIM:201000
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Short stature, Unsteady gait OMIM:614947
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Coronal craniosynostosis, Astigmatism ORPHA:2095
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating leptin concentration, Abnormal circula... ORPHA:2298
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Weight loss ORPHA:65682
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Skeletal muscle atrophy, Facial palsy, Arthrogryposis multiplex congenita, Kyphosis OMIM:617143
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Failure to thrive, Contracture of the proximal interphalangeal joint of the 4th fin... OMIM:618050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cataract, Cachexia OMIM:175500
Trisomy 18
Cataract, Microcornea, Abnormal morphology of female internal genitalia, Cryptorchidism, Cachexia... ORPHA:3380
Skin Creases, Congenital Symmetric Circumferential, 1
Short neck, Microcornea, Hypoplastic nipples, Microphthalmia OMIM:156610
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Harrod Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis, Failure to thrive ORPHA:2115
Focal Dermal Hypoplasia
Iris coloboma, Ectopia lentis, Coarse metaphyseal trabecularization, Hypoplasia of the iris, Corn... ORPHA:2092
Late-Onset Isolated Acth Deficiency
Failure to thrive, Decreased circulating ACTH concentration, Hyperuricemia, Hyponatremia, Decreas... ORPHA:199299
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Megalocornea-Intellectual Disability Syndrome
Short stature, Scoliosis, Kyphosis, Ataxia ORPHA:2479
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Contractures of the large joints, Rigidity, Abnormality of extrapyramidal moto... OMIM:617527
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Menometrorrhagia, Ocular albinism, Astigmatism, Weight loss, Neu... ORPHA:79430
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Microphthalmia ORPHA:2714
Fryns Syndrome
Cryptorchidism, Short neck, Corneal opacity, Microphthalmia, Bicornuate uterus, Hypospadias ORPHA:2059
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Back pain ORPHA:439232
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Fryns-Smeets-Thiry Syndrome
Cachexia, Scoliosis ORPHA:2058
Trichorhinophalangeal Syndrome, Type I
Abnormal blood phosphate concentration, Abnormal circulating calcium concentration, Scoliosis, Hy... OMIM:190350
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Low back pain, Weight loss, Retrograde ejaculation, Hydrocele test... ORPHA:49041
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Highly elevated creatine kinase, Scoliosis, Hyperlordosis, Decreased body weight ORPHA:258
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
8P23.1 Microdeletion Syndrome
Obesity, Cryptorchidism, Short neck, Weight loss, Hypospadias ORPHA:251071
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Incoordination, Ve... ORPHA:261318
Anauxetic Dysplasia 1
Platyspondyly, Atlantoaxial dislocation, Lumbar hyperlordosis, Short neck, Cervical subluxation, ... OMIM:607095
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Moderate postnatal growth retardation, Intrauterine growth retardation, Ver... ORPHA:1005
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Growth delay, Tremor OMIM:250800
Camurati-Engelmann Disease
Abnormality of the vertebral column, Hypogonadism, Slender build, Leukopenia, Splenomegaly, Cache... ORPHA:1328
Cousin Syndrome
Microcornea, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male,... OMIM:260660
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatosplenomegaly, Anemia, Weight loss, Micropenis, Scoliosis, Hemolytic anemia OMIM:619487
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramida... ORPHA:2131
Pfeiffer Syndrome
Short neck, Hyperlordosis ORPHA:710
Spondylocarpotarsal Synostosis Syndrome
Cataract, Block vertebrae, Hypoplasia of the odontoid process, C2-C3 subluxation, Vertebral segme... OMIM:272460
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Cataract, Scoliosis, Microphthalmia OMIM:253800
Williams Syndrome
Megalocornea, Overfriendliness, Posterior embryotoxon, Ataxia, Flat cornea, Cataract, Osteopenia,... ORPHA:904
Cono-Spondylar Dysplasia
Failure to thrive, Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Goiter ORPHA:142
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Conjunctivitis, Corneal ulceration, Kyphosis OMIM:153400
Neurofibromatosis Type 1
Ataxia, Cataract, Osteopenia, Heterochromia iridis, Lisch nodules, Attention deficit hyperactivit... ORPHA:636
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Pseudotrisomy 13 Syndrome
Cryptorchidism, Hemivertebrae, Microphthalmia, Micropenis, Bicornuate uterus OMIM:264480
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Intrauterine growth retardation, Obesity, Short neck, Scolios... ORPHA:254346
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Failure to thrive, Microphthalmia, Anophthalmia,... ORPHA:2556
3P25.3 Microdeletion Syndrome
Scoliosis, Sacral dimple, Microphthalmia ORPHA:435638
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Scoliosis, Microphthalmia OMIM:620098
Fanconi Anemia, Complementation Group N
Aplastic anemia, Short neck, Acute myeloid leukemia, Microphthalmia, Small for gestational age OMIM:610832
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Intrauterine growth retardation, Delayed puberty, Scolio... ORPHA:3121
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Small scrotum, Hyperlordosis ORPHA:3253
Dubowitz Syndrome
Hypospadias, Aplastic anemia, Hypoplasia of the iris, Megalocornea, Cryptorchidism, Microphthalmi... OMIM:223370
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Biconcave vertebral... OMIM:259420
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Intention tremor, Dysmetria, Tremor, Ataxia, Flexion contracture, Kyphosis OMIM:212065
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Macrocytic anemia, Narrow ... OMIM:250250
Kaposi Sarcoma
Weight loss ORPHA:33276
Fryns Syndrome
Ectopic pancreatic tissue, Stillbirth, Bifid scrotum, Polysplenia, Large for gestational age, Cry... OMIM:229850
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Shashi-Pena Syndrome
Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyp... OMIM:617190
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Decreased fertility in females, Weight loss, Eleva... ORPHA:91347
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Celiac Disease, Susceptibility To, 1
Failure to thrive, Macrocytic anemia, Iron deficiency anemia, Weight loss, Thrombocytosis, Infert... OMIM:212750
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death OMIM:618186
Gaucher Disease
Osteopenia, Increased circulating ferritin concentration, Decreased HDL cholesterol concentration... ORPHA:355
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity ORPHA:268
Fetal Alcohol Syndrome
Vertebral segmentation defect, Microphthalmia ORPHA:1915
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Contractures of the large joints, Rigidity, Abnormality of extrapyramidal moto... ORPHA:521426
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis, Obesity, Anterior polar cataract OMIM:250420
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Acromesomelic Dysplasia 1
Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o... OMIM:602875
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
Cap Myopathy
Lumbar hyperlordosis, Thoracic scoliosis ORPHA:171881
Thanatophoric Dysplasia Type 2
Platyspondyly, Short stature, Kyphosis ORPHA:93274
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Coronal cleft vertebrae, Lumbar hyperlordosis, Beaking of vertebral bodies OMIM:215150
Polymyositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:732
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Microcephaly-Micromelia Syndrome
Neonatal death, Short neck, Microphthalmia OMIM:251230
Bullous Pemphigoid
Weight loss ORPHA:703
Mosaic Trisomy 1
Penile hypospadias, Thoracic scoliosis, Microphthalmia, Micropenis, Opacification of the corneal ... ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Scoliosis, Kyphosis, Tremor OMIM:617061
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia, P... ORPHA:99867
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Microphthalmia, Spina bifida occulta, Scoliosis, Iris coloboma, ... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Short neck, Lumbar hyperlordosis OMIM:612813
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale... ORPHA:79102
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis, Cryptorchidism OMIM:602471
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Hypospadias, Small for gestational age, Cervical spinal canal stenosis, Decre... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Hypospadias, Small for gestational age, Cervical spinal canal stenosis, Decre... ORPHA:363958
Phace Association
Lingual thyroid, Optic nerve hypoplasia, Developmental cataract, Microphthalmia OMIM:606519
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Scoliosis, Kyphosis, Growth delay ORPHA:261144
Cole-Carpenter Syndrome 2
Platyspondyly, Postnatal growth retardation, Short stature, Kyphosis OMIM:616294
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic hernia, Camptodactyl... OMIM:617602
Stevens-Johnson Syndrome
Weight loss, Dyspareunia, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils, C... ORPHA:36426
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Opacification of the corneal stroma, Elevated circulating long chain fat... OMIM:214110
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Absent gallbladder, Microphth... OMIM:184705
Fliedner-Zweier Syndrome
Obesity, Scoliosis, Kyphosis, Hypertonia OMIM:620511
Bartsocas-Papas Syndrome 1
Axillary pterygium, Absent external genitalia, Popliteal pterygium, Hypoplastic male external gen... OMIM:263650
Wild Type Attr Amyloidosis
Weight loss, Spinal canal stenosis ORPHA:330001
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short stature, Short neck, Kyphosis ORPHA:3082
Metachromatic Leukodystrophy
Tip-toe gait, Decerebrate rigidity, Incoordination, Tremor, Gait disturbance, Ataxia, Dystonia, P... ORPHA:512
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Fountain Syndrome
Abnormal form of the vertebral bodies, Short stature, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:3219
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple, Scoliosis, Iris coloboma, Microphthalmia ORPHA:1236
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Platyspondyly, Thoracic platyspondyly, Kyphoscoliosis, Short neck, Beaking of vertebral bodies, T... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Holoprosencephaly
Abnormal form of the vertebral bodies, Failure to thrive in infancy, Panhypopituitarism, Abnormal... ORPHA:2162
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Yao Syndrome
Keratoconjunctivitis sicca, Weight loss OMIM:617321
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Corneal opacity, Iris coloboma, Osteolysis ORPHA:2396
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Abnormal temper tantrums, Broad-based gait, Limb ataxia, Corneal opacity,... ORPHA:2072
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Irregular vertebral endplates OMIM:226980
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Hypophosp... ORPHA:3337
3Mc Syndrome 3
Sacral dimple, Corneal opacity OMIM:248340
Saethre-Chotzen Syndrome
Hyperlordosis, Scoliosis, Abnormal form of the vertebral bodies, Cryptorchidism ORPHA:794
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Short stature, Scoliosis,... ORPHA:2050
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Intrauterine growth retardation, Spondylolisthesis,... OMIM:610443
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Microphthalmia, Opacification of the corneal stroma, Small for ... OMIM:251300
Mucolipidosis Type Ii
Inability to walk, Postnatal growth retardation, Diastasis recti, Hip contracture, Knee flexion c... ORPHA:576
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Elevated circulating phytanic acid concentration, Opacification of th... OMIM:614866
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Failure to thrive OMIM:608776
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Neonatal death, Hy... OMIM:601186
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Lumbar hyperlordosis, Cryptorchidism, Sho... ORPHA:251028
Osteootohepatoenteric Syndrome
Hypokalemia, Weight loss, Failure to thrive, Increased serum bile acid concentration OMIM:619377
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Short stature, Scoliosis, Kyphosis ORPHA:1969
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Polydipsia, Corneal crystals, Rickets, Hypokalemia, Hy... ORPHA:411629
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Weight loss ORPHA:100080
Trichothiodystrophy
Microcornea, Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Gonad... ORPHA:33364
3C Syndrome
Postnatal growth retardation, Short neck, Hemivertebrae, Short stature, Scoliosis, Kyphosis ORPHA:7
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Weight loss, Neutropenia, Thrombocytopenia, Anemia, Conjunctivitis, C... ORPHA:537
Cockayne Syndrome
Severe short stature, Spasticity, Growth delay, Skeletal muscle atrophy, Congenital contracture, ... ORPHA:191
Distal Deletion 10Q
Spina bifida occulta, Lumbar hyperlordosis, Astigmatism, Failure to thrive ORPHA:96148
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ... ORPHA:71493
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck... ORPHA:958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Kyphosis, Knee flexion contracture, Thoracic scoliosis OMIM:603387
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Desbuquois Dysplasia 2
Platyspondyly, Truncal obesity, Short neck, Lumbar hyperlordosis OMIM:615777
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Obesity, Biconcave vertebral bodies, Abdominal obesity, Vertebral compre... OMIM:219090
Myhre Syndrome
Platyspondyly, Cataract, Enlarged vertebral pedicles, Obesity, Cryptorchidism, Short neck, Microp... OMIM:139210
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... OMIM:248250
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Lymphopenia, Lumbar hyperlordosis, Increased intervertebral space, Kyphoscoliosis,... OMIM:607944
Trichodermodysplasia-Dental Alterations Syndrome
Adenoma sebaceum, Scoliosis, Hyperlordosis, Abnormal morphology of female internal genitalia ORPHA:3353
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short stature, Scoliosis, Kyphosis ORPHA:261190
Joubert Syndrome 2
Hypoplastic male external genitalia, Failure to thrive, Microphthalmia OMIM:608091
Meckel Syndrome 14
Aplasia of the uterus, Short neck, Ambiguous genitalia, Microphthalmia OMIM:619879
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract ORPHA:637
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Peters anomaly, Annular pancreas, Lumbar hyperlordosis, Cryptorchidism, Microphthalm... OMIM:616975
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Speech apraxia, Right ventricular hypertrophy, Tre... OMIM:300967
Linear Nevus Sebaceus Syndrome
Vertebral segmentation defect, Iris coloboma, Adenoma sebaceum, Microphthalmia ORPHA:2612
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Myopic astigmatism, Hepatosplenomegaly, Obesity, Hyperlordosis OMIM:301066
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Distal 16P11.2 Microdeletion Syndrome
Obesity, Kyphosis ORPHA:261222
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Decreased body weight, Progressive spastic quadriplegia, Clonus, To... OMIM:619475
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Vertebral segmentation defect, Microphthalmia, Vert... ORPHA:959
Acrodermatitis Enteropathica
Conjunctivitis, Weight loss, Failure to thrive, Corneal erosion ORPHA:37
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Rickets OMIM:219900
Addison Disease
Failure to thrive, Increased circulating ACTH level, Hyperuricemia, Hyponatremia, Decreased circu... ORPHA:85138
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:2075
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Aplasia of the uterus, Short neck, Anemia, Microphthalmia, Micropenis OMIM:614083
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Scoliosis ORPHA:300605
Achondroplasia
Lumbar hyperlordosis, Death in infancy, Narrow vertebral interpedicular distance, Severe platyspo... OMIM:100800
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Decreased circulating carnitine concentration, Failure ... OMIM:219800
Wilson Disease
Hypouricemia, Aminoaciduria, Hypoalbuminemia, Sunflower cataract, Kayser-Fleischer ring, Osteomal... OMIM:277900
Roberts Syndrome
Cataract, Clitoral hypertrophy, Long penis, Cryptorchidism, Short neck, Thrombocytopenia, Microph... ORPHA:3103
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Short stature, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vert... OMIM:603546
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Ambiguous genitalia, Cryptorchidism, Microphthalmia OMIM:616300
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Nail-Patella Syndrome
Spondylolysis, Lumbar hyperlordosis, Abnormal iris pigmentation, Spondylolisthesis, Primary conge... ORPHA:2614
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma ORPHA:29072
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Niemann-Pick Disease Type C
Cataplexy, Speech apraxia, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Tremor, Progressive ... ORPHA:646
Oculoectodermal Syndrome
Microcornea, Astigmatism, Short neck, Hyperactivity, Opacification of the corneal stroma, Limbal ... OMIM:600268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Cataract, Severe B lymphocytopenia, Lymphopenia, Cryptorchidism, Thrombocytopen... OMIM:620005
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Growth delay, Postnatal growth retardation, Kyphoscoliosis, Hemivertebrae, Macrogloss... OMIM:301040
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Craniosynostosis, Corneal opacity ORPHA:79396
Distal Triplication 15Q
Intrauterine growth retardation, Large for gestational age, Camptodactyly, Flexion contracture, S... ORPHA:314588
Microphthalmia, Syndromic 2
Hypospadias, Microcornea, Septate vagina, Anophthalmia, Cryptorchidism, Decreased body weight, Ph... OMIM:300166
Neuroblastoma, Susceptibility To, 1
Anemia, Weight loss, Failure to thrive OMIM:256700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Thoracic hemivertebrae, Thoracic kyphosis, Thoracic scoliosis, Short neck, Fused cer... ORPHA:508498
Microsporidiosis
Keratitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Decreased proportion ... ORPHA:2552
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Neonatal death, Short neck, Microphthalmia,... OMIM:617925
Prader-Willi Syndrome
Class III obesity, Decreased muscle mass, Failure to thrive in infancy, Obesity, Intrauterine gro... OMIM:176270
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Slender build, Lumbar hyperlordosis, Large for gestational age, Gait ataxia, ... ORPHA:457359
Stiff-Person Syndrome
Anemia, Lumbar hyperlordosis OMIM:184850
Al Amyloidosis
Howell-Jolly bodies, Weight loss, Anemia, Abnormal salivary gland morphology, Autonomic erectile ... ORPHA:85443
Tetraamelia Syndrome 1
Cataract, Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Asp... OMIM:273395
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight OMIM:182210
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis, Truncal obesity OMIM:219080
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Weight loss ORPHA:221098
Aicardi Syndrome
Precocious puberty, Cataract, Block vertebrae, Butterfly vertebrae, Hemivertebrae, Microphthalmia... OMIM:304050
Lateral Meningocele Syndrome
Decreased muscle mass, Biconcave vertebral bodies, Short neck, Short stature, Vertebral fusion, S... OMIM:130720
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Kyphoscoliosis, Weight loss, Hyperlordosis, Scoliosis ORPHA:2020
Neuroblastoma
Elevated circulating catecholamine level, Weight loss, Increased circulating ferritin concentration ORPHA:635
Oromandibular Dystonia
Weight loss ORPHA:93958
Mucopolysaccharidosis, Type Ii
Severe short stature, Kyphosis, Short neck, Short stature, Macroglossia, Flexion contracture, Mil... OMIM:309900
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Weight loss ORPHA:100082
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Failure to thrive, True anophthalmia, Cryptorchidism, Deat... ORPHA:1106
Spondyloperipheral Dysplasia
Platyspondyly, Rhizomelic arm shortening, Rhizomelic leg shortening, Short neck, Short stature, K... OMIM:271700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis OMIM:617011
Fatal Familial Insomnia
Weight loss OMIM:600072
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Lethargy, Abdominal obesity, Short stature, Flexion con... ORPHA:398069
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Splenomegaly, Keratoconjunctivitis sicca, Microphthalmia, Sco... ORPHA:90324
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly ... ORPHA:2215
Intellectual Developmental Disorder, Autosomal Dominant 73
Axillary pterygium, Lumbar hyperlordosis, Cryptorchidism, Thoracolumbar scoliosis, Hyperlordosis,... OMIM:620450
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Growth delay, Bilateral camptodactyly, Short stature, Scoliosis, Kyphosis OMIM:619557
Moebius Syndrome
Dysphagia, Corneal opacity ORPHA:570
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Decreased testicular size, Congenital hypoparathyroidism, Developmental... ORPHA:93325
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Polydipsia OMIM:266900
Cockayne Syndrome A
Failure to thrive, Intrauterine growth retardation, Tremor, Hip contracture, Severe postnatal gro... OMIM:216400
Monosomy 9P
Hypospadias, Abnormality of the vertebral column, Cryptorchidism, Short neck, Ambiguous genitalia... ORPHA:261112
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss, Abnormal circulating protein concentration ORPHA:747
Alveolar Echinococcosis
Abnormal vertebral morphology, Low back pain, Eosinophilia, Abnormal spleen morphology, Weight lo... ORPHA:284
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Weight loss, Abnormal circulating lipid co... ORPHA:829
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Craniofacial hyperostosis, Keratitis, Pterygium, Conjunctival telangiect... ORPHA:910
Acromesomelic Dysplasia 4
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thoracic scoliosis, Beaking of verte... OMIM:619636
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Astigmatism, C... OMIM:615873
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Momo Syndrome
Short neck, Obesity, Large for gestational age, Bilateral microphthalmos ORPHA:2563
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Renpenning Syndrome 1
Cataract, Decreased testicular size, Death in childhood, Phimosis, Microphthalmia, Scoliosis, Hyp... OMIM:309500
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hypoplasia, Hypoplasia of penis, Hyp... ORPHA:2166
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Brucellosis
Small for gestational age, Failure to thrive, Sacroiliac arthritis, Hypersplenism, Leukopenia, Le... ORPHA:1304
Whipple Disease
Anemia, Cachexia, Erectile dysfunction, Splenomegaly ORPHA:3452
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Weight loss, Back pain ORPHA:1333
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Beta-Ketothiolase Deficiency
Weight loss, Hyperammonemia, Hyperuricemia ORPHA:134
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Marden-Walker Syndrome
Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, ... ORPHA:2461
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Slender build, Cachexia, Weight loss, Elevated c... OMIM:603041
Mosaic Variegated Aneuploidy Syndrome
Cataract, Vaginal neoplasm, Ambiguous genitalia, Corneal opacity, Microphthalmia, Acute lymphobla... ORPHA:1052
Pyomyositis
Testicular teratoma, Weight loss, Leukocytosis ORPHA:764
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Pheochromocytoma, Cervical neoplasm, Prominent corneal nerve fibers, ... ORPHA:653
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Cataract, Abnormal form of the vertebral bodies, Elevated circulating 7-... ORPHA:818
Fraser Syndrome 2
Hypoplasia of the thymus, Short neck, Ambiguous genitalia, Microphthalmia OMIM:617666
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Failure to thrive, Microphthalmia ORPHA:364577
Malignant Atrophic Papulosis
Cataract, Weight loss ORPHA:679
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Gait ataxia, Astigmatism, Dysmetria, Aggressive behavior, Attention deficit hyp... OMIM:614756
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Scoliosis, Kyphosis OMIM:619718
Stuve-Wiedemann Syndrome 1
Thickened cortex of long bones, Short neck, Dysphagia, Osteoporosis, Opacification of the corneal... OMIM:601559
22Q11.2 Deletion Syndrome
Cataract, Hypospadias, Cholelithiasis, Failure to thrive, Abnormality of the uterus, Obesity, Cor... ORPHA:567
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Microcornea, Cryptorchidism, Short neck, Microphthalmia, Hypospadias OMIM:616734
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis, Lethal short-limbed short stature ORPHA:1860
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Hyperlordosis, Failure to thrive, Elevated circulating creatine kinase concentration ORPHA:365
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Juvenile Dermatomyositis
Elevated circulating C-reactive protein concentration, Weight loss, Calcinosis, Elevated circulat... ORPHA:93672
Marfan Syndrome
Increased axial length of the globe, Ectopia lentis, Hypoplasia of the iris, Slender build, Spond... ORPHA:558
Fontaine Progeroid Syndrome
Platyspondyly, Small scrotum, Absent nipple, Failure to thrive, Cryptorchidism, Death in infancy,... OMIM:612289
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Rhizomelia, Camptodactyly of finger, Flexion contracture, Lumbar hyperlordosis, Intervertebral sp... OMIM:143095
Joubert Syndrome 14
Microphthalmia OMIM:614424
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility ORPHA:3310
Oligomeganephronia
Elevated circulating creatinine concentration, Polydipsia ORPHA:2260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Hepatosplenomegaly, Leukopenia, Lumbar kyphosis, Short neck, Thrombocytopen... ORPHA:505248
Hallermann-Streiff Syndrome
Cryptorchidism, Developmental cataract, Microphthalmia ORPHA:2108
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Weight loss ORPHA:100085
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Astigmatism, Corneal neovascularization, E... OMIM:175780
Weaver Syndrome
Spasticity, Joint contracture of the hand, Diastasis recti, Hypertonia, Camptodactyly, Scoliosis,... OMIM:277590
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Keratitis, Abnormality of the vertebral column, Ast... ORPHA:2273
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Oculodentodigital Dysplasia
Cataract, Microcornea, Vertebral hyperostosis, Microphthalmia OMIM:164200
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Increased circulating cortisol level, Increased u... ORPHA:913
Vipoma
Elevated circulating calcitonin concentration, Increased circulating cortisol level, Hypokalemia,... ORPHA:97282
Pemphigus Vulgaris
Weight loss ORPHA:704
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Abnormality of the spleen, Anophthalmia, Perineal fistula, Microphthalmia, Rec... ORPHA:2538
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Iris coloboma, Microphthalmia ORPHA:268249
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Weight loss, Failure to thrive ORPHA:79128
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Spondyloenchondrodysplasia
Platyspondyly, Spasticity, Chorea, Disproportionate short-trunk short stature, Short stature, Kyp... ORPHA:1855
Ocular Cystinosis
Corneal crystals ORPHA:411641
Koolen-De Vries Syndrome
Vertebral segmentation defect, Short stature, Vertebral fusion, Scoliosis, Kyphosis ORPHA:96169
Wiedemann-Rautenstrauch Syndrome
Cataract, Osteopenia, Cervical vertebral dysplasia, Hypertriglyceridemia, Kyphoscoliosis, Hypopla... ORPHA:3455
Limb Body Wall Complex
Progressive congenital scoliosis, Abnormality of the vertebral column, Corneal opacity, Lens subl... ORPHA:2369
Neu-Laxova Syndrome 1
Cataract, Stillbirth, Pterygium, Cryptorchidism, Neonatal death, Short neck, Microphthalmia, Bifi... OMIM:256520
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Bifid scrotum, Cryptorchidism, Short neck, Micropenis, Microphthalmia, Antec... OMIM:609945
Autosomal Dominant Cutis Laxa
Osteopenia, Abnormal curvature of the vertebral column, Developmental cataract, Corneal opacity, ... ORPHA:90348
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Increased circulating ACTH level, Weight loss ORPHA:100075
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Weight loss, Neoplasm of the panc... ORPHA:440437
Townes-Brocks Syndrome
Abnormal vertebral morphology, Cataract, Iris coloboma, Hypospadias, Abnormal vagina morphology, ... ORPHA:857
Seckel Syndrome
Cachexia, Scoliosis ORPHA:808
Monosomy 13Q14
Cataract, Short neck, Iris coloboma, Microphthalmia ORPHA:1587
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypertriglyceridemi... ORPHA:275761
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Caroli Disease
Cholelithiasis, Conjunctival icterus, Leukocytosis, Splenomegaly, Weight loss ORPHA:53035
Lathosterolosis
Abnormal thoracic spine morphology, Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Sickle Cell Anemia
Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Galloway-Mowat Syndrome 3
Failure to thrive, Microphthalmia OMIM:617729
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Aicardi Syndrome
Precocious puberty, Block vertebrae, Butterfly vertebrae, Microphthalmia, Scoliosis ORPHA:50
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Proboscis Lateralis
Cataract, Microcornea, External genital hypoplasia, Anophthalmia, Corneal opacity, Microphthalmia... ORPHA:141099
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Short neck, Hyperlordosis, Macroorchidism, Scoliosis, Sacr... OMIM:619950
Meckel Syndrome, Type 1
Accessory spleen, Abnormality of the uterus, Ambiguous genitalia, female, External genital hypopl... OMIM:249000
Granulomatosis With Polyangiitis
Conjunctivitis, Weight loss, Keratitis, Granulomatosis OMIM:608710
Opitz-Kaveggia Syndrome
Lumbar hyperlordosis, Cryptorchidism, Short neck, Hypospadias, Sacral dimple OMIM:305450
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract OMIM:158310
Noonan Syndrome 14
Short stature, Short neck, Kyphosis, Scapular winging OMIM:619745
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Hyperkalemia, Back pain, Agitation ORPHA:340
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Anoperineal fistula, I... OMIM:301074
Klatskin Tumor
Weight loss ORPHA:99978
Degcags Syndrome
Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Chordee, Ambiguo... OMIM:619488
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin... ORPHA:37042
Charge Syndrome
Iris coloboma, Bifid scrotum, Abnormal morphology of female internal genitalia, Anophthalmia, Cry... ORPHA:138
Chime Syndrome
Osteolysis, Corneal opacity ORPHA:3474
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Anophthalmia, Cryptorchi... ORPHA:2052
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Kyphosis, Failure to thrive in infancy, Intrauterine growth retardation, Gait d... ORPHA:268261
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Hyperammonemia, Hyperuricemia ORPHA:20
Pigmented Nodular Adrenocortical Disease, Primary, 1
Secondary amenorrhea, Kyphosis OMIM:610489
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma OMIM:613884
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis, Camptodactyly of finger OMIM:619951
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Weight loss ORPHA:183
Budd-Chiari Syndrome
Weight loss ORPHA:131
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Failure to thrive, Kyphoscoliosis, ... OMIM:602535
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Sacrococcygeal pilonidal abnormality, Bilateral microphthalmos, Microphallus, Cryptorchidism, Sev... ORPHA:468631
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Kyphosis, Failure to thrive OMIM:239000
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Weight loss, Elevated circulating parathyroid hormone level ORPHA:143
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Cataract, Posterior synechiae of the anterior chamber, Elevated circulating creati... ORPHA:91500
Ppoma
Increased circulating cortisol level, Weight loss, Elevated circulating growth hormone concentrat... ORPHA:97278
Charge Syndrome
Cataract, Parathyroid hypoplasia, Hypoplastic male external genitalia, Decreased response to grow... OMIM:214800
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Familial Gestational Hyperthyroidism
Weight loss, Thyroid hyperplasia, Goiter ORPHA:99819
Thrombocytopenia-Absent Radius Syndrome
Cataract, Fused cervical vertebrae, Corneal opacity OMIM:274000
Branchiooculofacial Syndrome
Cataract, Hypospadias, Supernumerary nipple, Anophthalmia, Cryptorchidism, Short neck, Hyperlordo... OMIM:113620
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Weight loss OMIM:607459
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Spinal canal stenosis, Corneal opacity ORPHA:217085
Erdheim-Chester Disease
Anemia, Hypogonadotropic hypogonadism, Weight loss ORPHA:35687
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Thoracic scoliosis, Aplasia of the thymus, Hypoplastic nipples, Microphthalmia, Th... OMIM:620186
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Microphthalmia OMIM:201180
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Spinal canal stenosis, Corneal opacity ORPHA:217093
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Iris coloboma, Absent gallbladder, Microphthalmia ORPHA:3186
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Curry-Jones Syndrome
Iris coloboma, Microphthalmia OMIM:601707
Campomelic Dysplasia
Short neck, Poorly ossified cervical vertebrae, Short stature, Scoliosis, Kyphosis ORPHA:140
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Short neck, Corneal opacity, Spina bifida occulta, Iris co... ORPHA:709
Yunis-Varon Syndrome
Cataract, Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Severe failure to thriv... ORPHA:3472
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Endometrial carcinoma, Death in early adulthood, Sa... ORPHA:144
Cowden Syndrome
Failure to thrive, Ataxia, Short stature, Macroglossia, Scoliosis, Kyphosis ORPHA:201
Hutchinson-Gilford Progeria Syndrome
Shuffling gait, Reduced bone mineral density, Corneal opacity, Osteolytic defects of the distal p... ORPHA:740
Cowden Syndrome 1
Scoliosis, Kyphosis, Intention tremor OMIM:158350
Microphthalmia, Syndromic 6
Small scrotum, Microcornea, Failure to thrive, Anophthalmia, Cryptorchidism, Microphthalmia, Scle... OMIM:607932
Giant Cell Arteritis
Weight loss ORPHA:397
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C... OMIM:618223
Focal Dermal Hypoplasia
Ectopia lentis, Supernumerary nipple, Aniridia, Anophthalmia, Cryptorchidism, Hypoplastic nipples... OMIM:305600
Somatostatinoma
Increased circulating cortisol level, Weight loss, Elevated circulating growth hormone concentrat... ORPHA:97283
Kindler Epidermolysis Bullosa
Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Van Den Ende-Gupta Syndrome
Sclerocornea, Craniosynostosis, Sacral dimple OMIM:600920
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Tropical Pancreatitis
Pancreatic adenocarcinoma, Pancreatic calcification, Weight loss, Abnormal pancreatic duct morpho... ORPHA:103918
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Disproportionate short-limb short stature, Elbow flexion contracture, Hip contracture, Knee flexi... OMIM:619194
Behçet Disease
Cataract, Splenomegaly, Orchitis, Keratoconjunctivitis sicca, Weight loss ORPHA:117
Stickler Syndrome
Platyspondyly, Cataract, Ectopia lentis, Abnormal form of the vertebral bodies, Spinal canal sten... ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Intrauterine growth retardation, Scoliosis, Kyphosis, Decreased body weight OMIM:619005
Witteveen-Kolk Syndrome
Cataract, Iris coloboma, Hypospadias, Microphallus, Male urethral meatus stenosis, Decreased resp... OMIM:613406
Multiple Endocrine Neoplasia Type 1
Pituitary adenoma, Decreased male libido, Pituitary prolactin cell adenoma, Goiter, Pituitary gon... ORPHA:652
Rat-Bite Fever
Anemia, Weight loss, Back pain, Parotitis ORPHA:31205
Castleman Disease
Anemia, Decreased mean corpuscular volume, Weight loss, Thrombocytopenia ORPHA:160
Pulmonary Alveolar Microlithiasis
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss ORPHA:60025
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration OMIM:203500
Teebi-Shaltout Syndrome
Caudal appendage, Microphthalmia OMIM:272950
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... ORPHA:1724
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Cat Eye Syndrome
Iris coloboma, Microphthalmia OMIM:115470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Hypoplasia of the retina, Microphthalmia, Buphthalmos, Opacification of t... OMIM:253280
Grfoma
Increased circulating cortisol level, Weight loss, Elevated circulating growth hormone concentrat... ORPHA:97261
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Microphthalmia, Thyroid hypopla... ORPHA:672
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Kyphosis, Scapular winging OMIM:616914
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Scoliosis ORPHA:109
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Prostate ca... ORPHA:99889
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Weight loss, Iron deficiency anemia ORPHA:309031
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Clitoral hypertrophy, Long penis, Stillbirth, Enlarged labia minora, ... OMIM:268300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Abnormality of the cervical spine, Hepatosplenomegaly, Weight loss ORPHA:85408
Ramon Syndrome
Short stature, Scoliosis, Kyphosis, Decreased body weight OMIM:266270
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis ORPHA:261330
1P36 Deletion Syndrome
Failure to thrive, Spinal canal stenosis, Camptodactyly of finger, Obesity, Hemiplegia/hemiparesi... ORPHA:1606
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Cataract, Anophthalmia, Microphthalmia ORPHA:2526
Q Fever
Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia ORPHA:781
Glucagonoma
Increased circulating cortisol level, Weight loss, Elevated circulating growth hormone concentrat... ORPHA:97280
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Intellectual Developmental Disorder, X-Linked 112
Kyphosis, Kyphoscoliosis, Short stature, Scoliosis, Mild short stature OMIM:301111
Robinow Syndrome, Autosomal Dominant 3
Short neck, Camptodactyly, Short stature, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Scoliosis, Kyphosis OMIM:619482
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261250
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Zttk Syndrome
Spasticity, Growth delay, Failure to thrive, Intrauterine growth retardation, Hemivertebrae, Shor... OMIM:617140
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Microphthalmia, Adrenal gland dysgenesis, Stillbirt... OMIM:236680
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Sarcoidosis
Cataract, Parotitis, Leukopenia, Enlargement of parotid gland, Abnormal reproductive system morph... ORPHA:797
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity, Failure to thrive, Microphthalmia OMIM:608670
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Mend Syndrome
Failure to thrive, Hypertonia, Short stature, Kyphosis, Sacral dimple OMIM:300960
Mgat2-Cdg
Scoliosis, Kyphosis, Failure to thrive ORPHA:79329
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Scoliosis ORPHA:522077
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Isolated Arrhinia
Microphthalmia ORPHA:1134
African Trypanosomiasis
Keratitis, Abnormality of the menstrual cycle, Infertility, Hepatosplenomegaly, Splenomegaly, Wei... ORPHA:3385
Hajdu-Cheney Syndrome
Failure to thrive, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Dela... ORPHA:955
Riddle Syndrome
Weight loss, Elevated circulating alpha-fetoprotein concentration ORPHA:420741
Proteus Syndrome
Cataract, Long penis, Thymus hyperplasia, Abnormal form of the vertebral bodies, Central heteroch... ORPHA:744
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, Impaired lymphocyte transfor... OMIM:614162
Mowat-Wilson Syndrome
Cataract, Microcornea, Hypospadias, Bifid scrotum, Ectopia pupillae, Supernumerary nipple, Crypto... OMIM:235730
Ileal Neuroendocrine Tumor
Increased serum serotonin, Weight loss ORPHA:100078
Wolf-Hirschhorn Syndrome
Small for gestational age, Growth delay, Abnormal form of the vertebral bodies, Failure to thrive... OMIM:194190
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Failure to thrive, Decreased response to growth hormone stimulation test, ... OMIM:619503
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:607778
Digeorge Syndrome
Intervertebral disk degeneration, Hypocalcemia, Pilonidal sinus, Attention deficit hyperactivity ... OMIM:188400
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Failure to thrive, Lumbar hyperlordosis, Decreased body weight OMIM:618371
Juvenile Polyposis Of Infancy
Anemia, Cachexia, Refractory anemia, Freckled genitalia ORPHA:79076
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Camptodactyly, Growth... OMIM:249420
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Weight loss, Thrombocytopenia, Anemia, Hemolytic anemia OMIM:615846
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Holoprosencephaly 7
Panhypopituitarism, Iris coloboma, Bilateral microphthalmos, Microphthalmia OMIM:610828
Microphthalmia, Syndromic 1
Hypospadias, Microcornea, Ciliary body coloboma, Lumbar hyperlordosis, Anophthalmia, Cryptorchidi... OMIM:309800
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Corneal... OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Cataract, Hypospadias, Failure to thrive, Bifid scrotum, Septate vagina, Astigmatis... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Cataract, Microcornea, Hypospadias, Failure to thrive, Bifid scrotum, Ectopia pupil... ORPHA:261552
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spasticity, Spondylolisthesis, Beaking of vertebral bodies, Short s... OMIM:208400
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Pancreatic hypoplasia, Failure to thrive ORPHA:99885
Alstrom Syndrome
Obesity, Truncal obesity, Short stature, Scoliosis, Kyphosis OMIM:203800
Autosomal Recessive Robinow Syndrome
Disproportionate short-limb short stature, Camptodactyly of finger, Vertebral segmentation defect... ORPHA:1507
Mowat-Wilson Syndrome
Webbed penis, Cataract, Hypospadias, Bifid scrotum, Septate vagina, Astigmatism, Axenfeld anomaly... ORPHA:2152
Granulomatosis With Polyangiitis
Prostatitis, Weight loss, Granulomatosis ORPHA:900
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Kyphosis OMIM:619123
Chronic Graft Versus Host Disease
Abnormal vagina morphology, Pancytopenia, Phimosis, Recurrent corneal erosions, Keratoconjunctivi... ORPHA:99921
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Disproportionate short-t... OMIM:300106
Nijmegen Breakage Syndrome
Acute leukemia, Autoimmune hemolytic anemia, Short neck, Cachexia, Thrombocytopenia, Hemolytic an... ORPHA:647
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Aromatase Deficiency
Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea ORPHA:91
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Weight loss, Abnormal circulating protein ... ORPHA:48435
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Yellow Fever
Low back pain, Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circul... ORPHA:99829
Cdags Syndrome
Kyphosis OMIM:603116
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract OMIM:619869
Coffin-Siris Syndrome 1
Postnatal growth retardation, Intrauterine growth retardation, Gait ataxia, Congenital diaphragma... OMIM:135900
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Cleidocranial Dysplasia 1
Spondylolysis, Spondylolisthesis, Short stature, Scoliosis, Kyphosis, Moderately short stature OMIM:119600
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Reactive Arthritis
Conjunctivitis, Weight loss ORPHA:29207
Primary Sclerosing Cholangitis
Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Weight loss, Neoplasm of the gallbladder ORPHA:171
Kikuchi-Fujimoto Disease
Leukopenia, Enlargement of parotid gland, Splenomegaly, Lymphocytosis, Weight loss, Neutropenia, ... ORPHA:50918
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Decreased proportion of naive T cells, Sp... OMIM:619381
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Scoliosis, Kyphosis, Hemiplegia/hemiparesis ORPHA:394
Poland Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect, Short neck, Hemivertebrae, Spina ... ORPHA:2911
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Adams-Oliver Syndrome 1
Supernumerary nipple, Imperforate hymen, Microphthalmia OMIM:100300
Treacher Collins Syndrome 1
Abnormal parotid gland morphology, Cryptorchidism, Bilateral microphthalmos OMIM:154500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Lumbar hyperlordosis, Absent gallbladder, Kyphoscoliosis, Hemiverte... ORPHA:500150
Primrose Syndrome
Distal amyotrophy, Kyphosis, Skeletal muscle atrophy, Hip contracture, Knee flexion contracture, ... OMIM:259050
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Failure to thrive, Intrauterine growth retardation, Scapular wingi... OMIM:278250
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... OMIM:619534
Cerebrocostomandibular Syndrome
Short stature, Intrauterine growth retardation, Kyphosis ORPHA:1393
Nocardiosis
Conjunctivitis, Weight loss, Keratitis ORPHA:31204
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lisch nodules, Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:363700
Holoprosencephaly 2
Anterior pituitary agenesis, Scoliosis, Iris coloboma, Microphthalmia OMIM:157170
Turner Syndrome Due To Structural X Chromosome Anomalies
Growth delay, Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine g... ORPHA:99413
Mosaic Monosomy X
Growth delay, Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine g... ORPHA:99228
Monosomy X
Growth delay, Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine g... ORPHA:99226
Turner Syndrome
Growth delay, Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine g... ORPHA:881
Somatomammotropinoma
Impotence, Dysmenorrhea, Hypogonadotropic hypogonadism, Amenorrhea, Spinal canal stenosis, Kyphosis ORPHA:314769
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Facial palsy, Scoliosis, Kyphosis ORPHA:2658
Dermatomyositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:221
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Weight loss, Enlarged lacrimal gl... OMIM:181000
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral microphthalmos, Thoracic scoliosis, Short neck, Spina bifi... ORPHA:508488
Systemic Lupus Erythematosus
Leukopenia, Weight loss, Hemolytic anemia, Thrombocytopenia ORPHA:536
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
Coffin-Lowry Syndrome
Decreased body weight, Lumbar kyphosis, Short stature, Scoliosis, Kyphosis OMIM:303600
Acromegaly
Spinal canal stenosis, Dysmenorrhea, Hypogonadotropic hypogonadism, Impotence, Kyphosis ORPHA:963
Choreoacanthocytosis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:2388
Occipital Horn Syndrome
Platyspondyly, Growth delay, Kyphosis OMIM:304150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Hyperlordosis ORPHA:73223
Yunis-Varon Syndrome
Cataract, Anterior concavity of thoracic vertebrae, Decreased skull ossification, Decreased calva... OMIM:216340
17Q11 Microdeletion Syndrome
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal central motor f... ORPHA:97685
Occipital Horn Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:198
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Butterfly vertebrae, Corneal neovascularization, Recurrent corneal erosions, Opacifica... OMIM:308205
Craniofacial Microsomia 1
Block vertebrae, Limbal dermoid, Anophthalmia, Hemivertebrae, Microphthalmia, Scoliosis, Vertebra... OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen OMIM:233450
Viss Syndrome
Failure to thrive, Butterfly vertebrae, Right ventricular hypertrophy, Contracture of the proxima... OMIM:619472
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Tremor, Hip contracture, Bilateral camp... ORPHA:821
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hip1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hip1.

No publications found that use IMPC mice or data for Hip1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hip1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hip1em1(IMPC)Hmgu Exon Deletion Mice
Hip1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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