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Gene: Col9a2 MGI:88466

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Gene Summary

Name:
collagen, type IX, alpha 2
Synonyms:
Col9a-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal femur morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.53×10-14
abnormal joint morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.69×10-14
abnormal humerus morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.69×10-14
abnormal auditory brainstem response Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.63×10-07
increased circulating alkaline phosphatase level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 4.83×10-05
abnormal radius morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.48×10-08
tremors Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 1.21×10-06
abnormal ulna morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-14
increased circulating triglyceride level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 6.33×10-06
abnormal tibia morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.64×10-13
short tibia Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.54×10-10
decreased locomotor activity Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 6.54×10-06
abnormal ear morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 8.23×10-13
abnormal pelvic girdle bone morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.99×10-08
decreased prepulse inhibition Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 5.44×10-09

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 50% (1 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

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Human diseases caused by Col9a2 mutations

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

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

The table below shows human diseases associated to Col9a2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epiphyseal Dysplasia, Multiple, 2
Genu varum, Tibial torsion, Hip dysplasia, Osteochondritis dissecans, Irregular epiphyses, Epiphy... OMIM:600204
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Genu valgum, Abnormality of the knee, Coxa vara, Abnormality of the epiphyses of the ... ORPHA:166002
Autosomal Recessive Stickler Syndrome
Genu valgum, Sensorineural hearing impairment, Micrognathia, Epiphyseal dysplasia, Abnormal epiph... ORPHA:250984
Stickler Syndrome, Type V
Sensorineural hearing impairment OMIM:614284

The table below shows human diseases predicted to be associated to Col9a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Metaphyseal Anadysplasia
Abnormal ulnar metaphysis morphology, Abnormality of the lower limb, Abnormal morphology of ulna,... ORPHA:1040
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... ORPHA:1570
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata... ORPHA:2779
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... OMIM:249700
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Pes cavus, Tremor, D... OMIM:615048
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... ORPHA:2632
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Spasticity, Finger syndactyly, Clinodactyly of the 5th finger, Spa... ORPHA:1891
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Elevated circulating creatine kinase concentration... OMIM:160120
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... ORPHA:71289
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... ORPHA:1447
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... ORPHA:3104
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Hip dislocatio... OMIM:605274
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... ORPHA:1837
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... ORPHA:2634
Dyschondrosteosis And Nephritis
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity OMIM:127350
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... OMIM:200500
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Acrorenal Syndrome
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Abnormal foot morphology, Mildly elevated creatine kinase, Tremor, Absent patellar reflexes, Hear... OMIM:614369
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... ORPHA:2633
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... ORPHA:3266
Epiphyseal Dysplasia, Multiple, 2
Genu varum, Tibial torsion, Hip dysplasia, Osteochondritis dissecans, Irregular epiphyses, Epiphy... OMIM:600204
Optic Atrophy 2
Dysdiadochokinesis, Optic atrophy, Babinski sign, Tremor, Absent Achilles reflex OMIM:311050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus OMIM:613618
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger OMIM:618010
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Genu valgum, Abnormality of the knee, Coxa vara, Abnormality of the epiphyses of the ... ORPHA:166002
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi... OMIM:615924
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Gait disturbance, Metaphyse... ORPHA:2501
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... ORPHA:1263
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Premature o... ORPHA:93307
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... OMIM:156500
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Eiken Syndrome
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... ORPHA:79106
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... ORPHA:93308
Coxopodopatellar Syndrome
Abnormality of the knee, Hip dysplasia, Abnormal pelvic girdle bone morphology, Abnormal epiphysi... ORPHA:1509
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Absent forearm, Micrognathia, Clinodactyly, T... OMIM:201170
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Hip dysplasia, Abnormal foot morpho... ORPHA:101077
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... ORPHA:52056
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Dysspondyloenchondromatosis
Genu valgum, Joint dislocation, Abnormal ulnar metaphysis morphology, Metaphyseal enchondromatosi... ORPHA:85198
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor... ORPHA:1802
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Radial deviation of the hand, Micrognathia, Met... ORPHA:2756
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Difficulty ... OMIM:610717
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:9
Beukes Hip Dysplasia
Broad femoral neck, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Flat capi... OMIM:142669
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Gait disturbance, Elevated circulating creatine kinase concentration, ... OMIM:616516
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Pes cavus, Dysmetria, Tr... OMIM:618387
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Split foot, Short hallux, Split... OMIM:119100
Slc35A2-Cdg
Short tibia, Hip subluxation, Camptodactyly of finger, Sensorineural hearing impairment, Coxa val... ORPHA:356961
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Short femur, Hypop... OMIM:619598
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Babinski sign, Decreased se... OMIM:609260
Distal Arthrogryposis Type 1
Camptodactyly of finger, Ulnar deviation of finger, Adducted thumb, Talipes, Overlapping fingers,... ORPHA:1146
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Sensorineural hearing impairment, Rhizomelia, Short ribs, Hypoplasia of the radius, ... OMIM:607143
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,... OMIM:171480
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Inability to walk, Gait disturbance, Upper motor neur... ORPHA:276435
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metacarpal morphology, Elbow dislocation, Mesomelia, Low-set, p... ORPHA:2631
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Coxa vara, Rhizomelia, Flared iliac wing, Proximal femoral metaph... OMIM:183849
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Multiple Metaphyseal Dysplasia
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Gait disturbance, Micromelia, Ab... ORPHA:93430
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... ORPHA:309169
Intellectual Developmental Disorder, Autosomal Recessive 48
Macrotia, Small hand, Inability to walk, Tremor, Waddling gait OMIM:616269
Hypochondroplasia
Short toe, Genu varum, Abnormality of the elbow, Micromelia, Abnormal pelvic girdle bone morpholo... ORPHA:429
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:1307
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... OMIM:608728
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... OMIM:177170
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Pes cavus, Tremor OMIM:617018
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Hip subluxation, Short phalanx of finger, Short 5th finger, Micrognathia, Hip disloc... OMIM:268305
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... ORPHA:1856
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Acromesomelic Dysplasia, Hunter-Thompson Type
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... ORPHA:968
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester... OMIM:144300
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Foot polydactyly, Micrognathia, Short finger, Hand polydactyly, Clin... OMIM:258860
Atelosteogenesis Type Iii
Short tibia, Hand clenching, Short tubular bones of the hand, Patellar dislocation, Vertebral hyp... ORPHA:56305
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, Difficulty walki... OMIM:613608
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Radial club hand, Aplasia/Hypopla... ORPHA:2878
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Thoracomelic Dysplasia
Genu valgum, Short ribs, Gait disturbance, Abnormal pelvic girdle bone morphology, Elbow dislocat... ORPHA:1803
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... ORPHA:2370
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... ORPHA:166016
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab... ORPHA:2725
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... ORPHA:1106
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo... OMIM:251230
Acrodysostosis
Short toe, Cone-shaped epiphysis, Short metacarpal, Hypoplasia of the radius, Abnormal morphology... ORPHA:950
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... OMIM:164900
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Abnormal hand bone ossification, Lim... ORPHA:1505
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Neuronopathy, Distal Hereditary Motor, Type Viia
Pes cavus, Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Abnormal autonomic nervous system physiology, Metaphyseal r... OMIM:601559
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Short metatarsal, Deformed humeral heads,... OMIM:601438
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Pes cavus, Difficulty walking, Hammertoe, Tongue fasci... OMIM:601596
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Talipes equinovar... OMIM:601382
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... ORPHA:2491
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Broad foot, Abnormal carpal morphology, Co... ORPHA:93351
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Sensorineural hearing impairment, Finger syndactyly, Tibial torsion, Pate... ORPHA:3320
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Sensorineural hearing impairment, Radial bowing, Clinodactyly of the 5th finger, Ulnar bowing, Hi... OMIM:605432
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Hearing impairment ORPHA:217012
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... ORPHA:52368
Microtriplication 11Q24.1
Genu valgum, Joint dislocation, Small hand, Talipes equinovarus, Clinodactyly of the 5th finger, ... ORPHA:289522
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Gait disturbance, Abnormal pelvic... ORPHA:2928
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short metacarpal, Short lon... OMIM:614078
Exostoses, Multiple, Type Ii
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... OMIM:133700
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Sensorineural hearing impairment, Short foot, Hypoplastic pubic bone, Enl... OMIM:609616
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Pes cavus, Loss of ambulat... OMIM:614018
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, L... ORPHA:521406
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus, Parkin... OMIM:260300
Prader-Willi Syndrome Due To Imprinting Mutation
Narrow palm, Short foot, Abnormal ulnar metaphysis morphology, Small hand ORPHA:177910
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr... OMIM:609945
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Coronary Artery Disease, Autosomal Dominant 2
Gout, Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Shox-Related Short Stature
Genu valgum, Micrognathia, Lower limb undergrowth, Cubitus valgus, Ulnar radial head dislocation,... ORPHA:314795
Coxoauricular Syndrome
Microtia, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia, Abnormality of fem... ORPHA:1508
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Microtia, Preaxial foot polydactyly, Hip dysplasia, M... ORPHA:1988
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... OMIM:228900
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Generalized Epilepsy With Febrile Seizures-Plus
Poor fine motor coordination, Talipes valgus, Bradykinesia, Tibial torsion, Incoordination, Ataxi... ORPHA:36387
Auriculoosteodysplasia
Macrotia, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Abnormal metacarpal morphology, Abno... ORPHA:114
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Short femoral neck, Coxa vara, Swan neck-like defo... OMIM:616716
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Hearing i... OMIM:165300
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased motor nerve conduction velocity, Upper limb postural tremor, Pes cavus, Ac... OMIM:180800
Abruzzo-Erickson Syndrome
Macrotia, Radioulnar synostosis, Hearing impairment, Protruding ear OMIM:302905
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Small hand, Tremor, Hypertonia, Unsteady gait,... OMIM:617435
Temple Syndrome
Hypertriglyceridemia, Small hand, Micrognathia, Clinodactyly, Hypercholesterolemia, Short foot, P... OMIM:616222
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... OMIM:615127
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsal, Short 1s... OMIM:201050
Ulnar Hypoplasia
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... OMIM:191440
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Abnormal foot morphology, Flared iliac wing, Flat acetabular roof, Halberd-shaped pelv... OMIM:184252
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, EEG abnormality, Broad palm, Abnormal forearm morphol... OMIM:182290
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Madelung deformity, Radial bowing, Limited pronation/supination of forearm DECIPHER:58
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Conductive hearing impairment, Broad foot, Short foot, Broad t... ORPHA:2502
Pentasomy X
Camptodactyly of finger, Small hand, Hip dysplasia, Micrognathia, Radioulnar synostosis, Clinodac... ORPHA:11
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Short foot, Small hand, Dysdiadochokinesis, Truncal ataxia, Dysmetria, Tremor, Short palm OMIM:610185
Wt Limb-Blood Syndrome
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Sensorineural hearing impairment... OMIM:194350
Thalidomide Embryopathy
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Radial club hand... ORPHA:3312
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia OMIM:264070
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor coordinati... ORPHA:363400
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... OMIM:184253
Multiple Osteochondromas
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Genu valgum, Abnormality of the knee, A... ORPHA:321
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Optic nerve hypoplasia, Pes cavus, Steppage gait, Scapular winging, Unsteady g... ORPHA:101085
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Myopathy, spheroid body
Elevated circulating creatine kinase concentration, Tremor, Absent Achilles reflex, Broad-based g... OMIM:182920
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait dist... ORPHA:363710
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Bilateral talipes equinovarus, Preaxial foot polydactyly, Absent tibia, Mirr... OMIM:119800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Macrotia, Small hand, Spastic tetraplegia, Spastic gait, Resting tremo... OMIM:300055
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Kyphomelic Dysplasia
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Pterygium, Sho... OMIM:211350
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Fatiguable weakness of proximal limb muscles, Elevated circulating creatine ki... ORPHA:90117
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Limitation of movement at... ORPHA:206594
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Myoclonus, Clinodactyly, Ataxia, Pes cavus, Syndactyly, Large fleshy ears, Tremor, H... OMIM:619092
Late-Infantile/Juvenile Krabbe Disease
Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Gait disturbance, U... ORPHA:206443
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Elevated circulating creatine kinase concentration, Abnormal pelvic girdle bone... OMIM:167320
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hypoplasia of the radius, Micrognathia, Hand oligodactyly, Proximal placement of th... OMIM:602418
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasi... OMIM:227270
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis,... OMIM:277460
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Microtia, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bon... ORPHA:1788
Ulna Hypoplasia-Intellectual Disability Syndrome
Delayed cranial suture closure, Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, ... ORPHA:2249
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... OMIM:186500
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Tarsal synostosis, Talipes ... OMIM:163400
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Pes cavus, Distal upper limb amyotr... ORPHA:101075
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast... OMIM:608940
Omodysplasia 1
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... OMIM:258315
Desbuquois Syndrome
Camptodactyly of finger, Coxa valga, Coxa vara, Small hand, Patellar dislocation, Radioulnar syno... ORPHA:1425
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... ORPHA:216873
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Macrotia, Rhizomelia, Short long bone, Short ribs, Flat acetabular roof, Microretrog... OMIM:616300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Rickets of the lower limbs,... OMIM:600785
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Small hand, EEG abnormality, Inability to walk, Apraxia,... ORPHA:3095
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Delayed ossification of pubic rami, Rhizomelia, Micrognathia, Hip ... OMIM:602471
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sen... OMIM:125250
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... OMIM:213600
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of the metacarpals, Hypoplastic ilia... OMIM:210720
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... OMIM:307800
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... ORPHA:2741
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Deviation of finger, Deforme... ORPHA:2831
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Delayed epiphyseal ossification, Bulging epiphyses, Hypophosphatemia, F... OMIM:600081
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Gait disturbance, Babinski sign, Spastic paraplegia, Enlargement of the wrists, Lar... ORPHA:83629
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... OMIM:610797
Camurati-Engelmann Disease
Genu valgum, Coxa valga, Optic nerve compression, Optic atrophy, Abnormality of the humerus, Abno... ORPHA:1328
Atelosteogenesis, Type Iii
Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Flat acetabular roof, Micrognathi... OMIM:108721
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, EEG with generalized epileptiform discharges, Ataxia OMIM:616187
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Short long bone, Short ribs, Absent tibia, Short digit, Talipes equinovaru... OMIM:613091
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ... OMIM:311300
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Abno... ORPHA:93311
Weismann-Netter Syndrome
Lateral femoral bowing, Squared iliac bones, Anterior tibial bowing, Fibular bowing OMIM:112350
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Pes cavus, Spastic ... ORPHA:251282
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Hyporeflexia of lower limbs, Gait disturbance, Babinski sign, Calcane... ORPHA:93952
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Inability to walk, Frequent falls, Difficulty walking, Limited elbow exte... ORPHA:239
Moebius Syndrome
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Dysdi... OMIM:157900
Acromesomelic Dysplasia 4
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Short metatarsal, Genu... OMIM:619636
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Arachnodactyly OMIM:619013
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Tip-toe gait, Decreased motor nerve conduction velocity, Achill... OMIM:302800
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Jeune Syndrome
Toe syndactyly, Micromelia, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, B... ORPHA:474
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment, Coxa valga OMIM:109120
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Abnor... OMIM:601455
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Frequent falls, Broad finger OMIM:617523
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Kniest Dysplasia
Genu varum, Conductive hearing impairment, Dumbbell-shaped long bone, Splayed epiphyses, Coxa var... OMIM:156550
Atelosteogenesis, Type Ii
Bifid humerus, Micrognathia, Flat acetabular roof, Talipes equinovarus, Hitchhiker thumb, Abnorma... OMIM:256050
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... OMIM:147891
Martsolf Syndrome 1
Short phalanx of finger, Short toe, Broad femoral neck, Talipes valgus, Avascular necrosis of the... OMIM:212720
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Holzgreve Syndrome
Macrotia, Abnormal metacarpal morphology, Hand polydactyly, Abnormal morphology of ulna, Low-set,... ORPHA:2167
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Pes cavus, Tremor, Decreased nerve conduction velocity, Hearing impairment ORPHA:101078
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Paraparesis, Femoral bowing, Short femur, Osteosclerosis... OMIM:602080
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic gird... OMIM:144750
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... OMIM:223800
Achondroplasia
Genu varum, Conductive hearing impairment, Short femoral neck, Rhizomelia, Short ribs, Radial bow... OMIM:100800
Fibrous Dysplasia Of Bone
Antalgic gait, Coxa vara, Increased circulating cortisol level, Abnormality of the humerus, Hypop... ORPHA:249
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Upper limb undergrowth, Small hand, Optic atrophy, EEG abnormality, Mic... OMIM:608799
Autosomal Recessive Omodysplasia
Rhizomelia, Abnormal metaphysis morphology, Micrognathia, Abnormal morphology of the radius, Pter... ORPHA:93329
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Gait disturbance, Tremor, Orthostatic hypotension, Bradykinesia OMIM:616710
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Limb u... OMIM:108720
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... OMIM:142900
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Micrognat... ORPHA:251014
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... OMIM:609441
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, D... ORPHA:1368
Arthrogryposis, Distal, Type 2A
Knee flexion contracture, Wrist flexion contracture, Joint dislocation, Hip contracture, Ulnar de... OMIM:193700
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Ataxia, Pes cavus, Dysmetria, Tre... OMIM:617916
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Ankle clonus, Spasticity, Tip-toe gait, Inability to walk, Parkinsonism, Limb ... OMIM:617013
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna ORPHA:1122
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal lower limb amyotrophy, Achilles tendon contracture, Elbow flexion contract... ORPHA:98863
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... ORPHA:99027
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irregular epiphyses, Ataxi... OMIM:619260
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal lower limb amyotrophy, Achilles tendon contracture, Elbow flexion contract... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal lower limb amyotrophy, Achilles tendon contracture, Elbow flexion contract... ORPHA:98853
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Sensorineural hearing impairment, Abnormal long bone morphology, Short m... ORPHA:1427
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal lower limb amyotrophy, Achilles tendon contracture, Hyporeflexia of lower ... ORPHA:98855
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology, Abnormal pelvic girdle... ORPHA:3429
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkins... ORPHA:240103
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Sensorineural hearing impairment, Rhizomelia, Micrognathia, Micromelia... ORPHA:440354
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Micrognathia, Hypertriglyceridemia ORPHA:436182
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Femoral bowing, Wormian bones, Broad thum... OMIM:619638
Smith-Magenis Syndrome
Hypercholesterolemia, Conductive hearing impairment, EEG abnormality, Toe syndactyly, Micrognathi... ORPHA:819
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Ulnar bowing, Aplasia/Hypoplasia of the radius, Micromelia, Madelung deformity ORPHA:1765
Autosomal Dominant Omodysplasia
Rhizomelia, Patellar dislocation, Short 1st metacarpal, Micrognathia, Elbow dislocation, Short pa... ORPHA:93328
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Glycerol Kinase Deficiency
Lethargy, Low-set ears, Hypertriglyceridemia OMIM:307030
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia OMIM:261630
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing OMIM:166740
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, EEG abnormality, Clumsiness, Gait dis... ORPHA:206448
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Hypertriglyceridemia, Macrotia, Radioulnar dislocation, Hallux valgus, Join... ORPHA:536532
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Talipes equinovaru... OMIM:206920
Grant Syndrome
Joint dislocation, Micrognathia, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone mo... ORPHA:2097
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Abnormal pelvic girdle bone morphology, Club-shaped dis... OMIM:123000
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Hypophosphatemia, Femoral bowing, Bow... OMIM:277440
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Talipes cavus equinovarus, Progressive cerebellar ata... ORPHA:139485
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... OMIM:618395
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Metaphyseal irregularity, Delayed epiphyseal ossifica... OMIM:241530
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, EEG abnormality, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Monomelic Amyotrophy
Abnormality of the upper limb, Abnormality of peripheral nerve conduction, Distal upper limb amyo... ORPHA:65684
Sheldon-Hall Syndrome
Round ear, Ulnar deviation of the wrist, Micrognathia, Ulnar deviation of finger, Adducted thumb,... ORPHA:1147
Mandibuloacral Dysplasia
Delayed cranial suture closure, Increased circulating free fatty acid level, Acroosteolysis of di... ORPHA:2457
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Microtia, Short long bone, Micrognathia, Short ribs, Preaxia... OMIM:617925
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Choreoathetosis, Clinodactyly of the 5th finger, Ataxia, Pes cavus, Tremor, Bilate... OMIM:619422
Marshall Syndrome
Sensorineural hearing impairment, Coxa valga, Hypoplastic ilia, Radial bowing, Micrognathia, Irre... OMIM:154780
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... OMIM:617604
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Difficulty... OMIM:159950
Spinocerebellar Ataxia Type 14
Gait ataxia, Abnormality of the Achilles tendon, Rigidity, Myoclonus, Hyporeflexia of lower limbs... ORPHA:98763
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicles, Bilateral talipes e... OMIM:618022
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Limited elbow ... OMIM:164745
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femo... OMIM:618019
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Macrotia, Tapered finger, Inability to walk, Decreased motor nerve conduction... OMIM:218000
Temtamy Preaxial Brachydactyly Syndrome
Short metacarpal, Optic atrophy, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Brachyda... OMIM:605282
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Sensorineural hearing impairment, Inability to walk, Eyelid myoclonus, Clumsiness... ORPHA:2590
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Low-frequency sensorineural hearing impairment, Hypertriglyceridemia, Increased circulating ferri... OMIM:613101
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, EEG with generalized slow activity grade 4, Myo... ORPHA:79263
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Pes cav... ORPHA:99014
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... ORPHA:391411
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia, Tetraplegia, Fasc... OMIM:604484
Mietens Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... ORPHA:2557
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Pes cavus, Dysmetria, Tremor OMIM:607458
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Satoyoshi Syndrome
Genu varum, Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of t... ORPHA:3130
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Autosomal Dominant Dopa-Responsive Dystonia
Gait ataxia, Bradykinesia, Paresis of extensor muscles of the big toe, Postural tremor, Parkinson... ORPHA:98808
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Delayed epiphyseal ossification, Bulging epiphyses, Hypophosphatemia, F... OMIM:264700
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spastic Paraplegia 9A, Autosomal Dominant
Gait ataxia, Hoffmann sign, Spastic gait, Resting tremor, Gait disturbance, Carpal bone hypoplasi... OMIM:601162
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... OMIM:147750
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Disl... OMIM:600920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Tetraplegia, Increased VLDL cholesterol concentration, Hemiplegia, Ata... OMIM:267700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... OMIM:208920
Trisomy X
Hip dysplasia, Tremor, Clinodactyly of the 5th finger ORPHA:3375
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Babinski sign, Pes cavus, Spasticity, Abnorma... ORPHA:909
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Short ribs, Radial bowing, Micrognathia, Missing ribs, Ulnar bowing, Micromel... OMIM:617866
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Tapered finger, Optic atrophy, Myoclonus, Ataxia, Babinski sign, Pes cavus, Dysmetri... OMIM:616505
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Humeroradial synostosis, Coronal craniosynostosis, Narrow pelvis bone, Camptodactyly, Ulnar bowin... OMIM:207410
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... OMIM:603671
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ... OMIM:614307
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Diamond-Blackfan Anemia 11
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... OMIM:614900
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia, Hearing impairment ORPHA:79234
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Hemiatrophy, Tremor, Difficulty walking, Dystonia, Bradykinesia ORPHA:306669
Syngap1-Related Developmental And Epileptic Encephalopathy
Macrotia, Poor coordination, Gait disturbance, Ataxia, Tremor, Anteverted ears, Postaxial polydac... ORPHA:544254
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Widely patent coronal suture, Short palm, Narrow greate... OMIM:228520
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Carpal synostosis, Mesomelia OMIM:156232
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... OMIM:164500
Xp21 Deletion Syndrome
Spasticity, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Finger c... ORPHA:261476
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Conductive hearing impairment, Fin... ORPHA:2751
Tibial Hemimelia
Absent tibia OMIM:275220
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi... ORPHA:247585
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Deviation of the 5th fing... OMIM:143095
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Peroxisome Biogenesis Disorder 5B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Oculomotor ap... OMIM:614867
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... OMIM:151210
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Areflexia of lower limbs, Triceps weakness, Areflexia of upper limbs, Clubbing of fingers, Polymi... OMIM:619574
Dopa-Responsive Dystonia
Inability to walk, Parkinsonism, Fatigable weakness, Poor coordination, Oculogyric crisis, Rigidi... ORPHA:255
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Pes cavus, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Hyperextensibility of the finger joints, Abnormal pelvic girdle... OMIM:610967
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle hypertrophy ORPHA:280356
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Abnormal autonomic nervous system physiology, O... OMIM:618049
Saccharopinuria
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... ORPHA:3124
Boomerang Dysplasia