Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 ear morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 8.23×10-13
abnormal ulna morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-14
abnormal auditory brainstem response Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.63×10-07
abnormal humerus morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.69×10-14
increased circulating alkaline phosphatase level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 4.83×10-05
decreased prepulse inhibition Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.44×10-09
increased circulating triglyceride level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 6.33×10-06
abnormal pelvic girdle bone morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.99×10-08
abnormal radius morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.48×10-08
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 joint morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.69×10-14
tremors Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 1.21×10-06
abnormal femur morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.53×10-14

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

6 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

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.

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, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... ORPHA:1570
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited pronation/supination of forearm, Radioulnar synostosis OMIM:179300
Spinal Muscular Atrophy, Jokela Type
Pes cavus, Difficulty walking, Hammertoe, Fasciculations, Calf muscle hypertrophy, Tremor, Elevat... OMIM:615048
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Abnormality of the hand, Incoordination, Tremor, Episodic ataxia, El... OMIM:160120
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Sensorineural hearing impairment, Radioulnar s... ORPHA:71289
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal... ORPHA:1350
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn... ORPHA:3104
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Epiphyseal Dysplasia, Multiple, 2
Osteochondritis dissecans, Irregular epiphyses, Small epiphyses, Tibial torsion, Broad-based gait... OMIM:600204
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... ORPHA:971
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Upper... ORPHA:3266
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Abnormal foot morphology, Tremor, Hearing impairment, Decreased patellar reflex, Mildly elevated ... OMIM:614369
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor, Absent Achilles reflex OMIM:311050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Talipes equinovarus, Hip dysplasia, Acetabular dysplasia, Coxa valga OMIM:613618
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T... OMIM:615924
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... ORPHA:2768
Multiple Epiphyseal Dysplasia Type 4
Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Short metacarpal, Broad femoral... ORPHA:93307
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Bowing of the long bones, Gait disturbance, Short lower limbs, Me... ORPHA:2501
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
X-Linked Charcot-Marie-Tooth Disease Type 3
Equinovarus deformity, Pes cavus, Abnormal foot morphology, Difficulty walking, Inability to walk... ORPHA:101077
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Waddling gait... OMIM:156500
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Epiphyseal dyspl... ORPHA:79106
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Dysspondyloenchondromatosis
Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Joint dislocation,... ORPHA:85198
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Slc35A2-Cdg
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Inability to walk, Talip... ORPHA:356961
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Hypertonia, Pes cavus, Decreased sensory nerve conduction velocity,... OMIM:609260
Tetrasomy X
Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia ORPHA:9
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Pes cavus, Writer's cramp, Torticollis, Transient hyperphenylalanine... OMIM:128230
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph... OMIM:142669
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Tal... OMIM:601382
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Pes cavus, Steppage gait, Hammertoe, Tremor, Elevated circulating creatine kinase concentration, ... OMIM:618387
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Tremor, Limb dystonia, Hearing impairment, Ataxia OMIM:620270
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate... OMIM:616516
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... OMIM:609052
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the hand, Hip subluxation, Difficulty walking, Wide distal femoral metaphysis, Art... ORPHA:99642
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... OMIM:226900
Distal Arthrogryposis Type 1
Rocker bottom foot, Talipes, Abnormal hip bone morphology, Camptodactyly of finger, Ulnar deviati... ORPHA:1146
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Charcot-Marie-Tooth Disease And Deafness
Pes cavus, Steppage gait, Hammertoe, Sensorineural hearing impairment, Tremor, Split hand, Gait d... OMIM:118300
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Macrotia, Small hand OMIM:616269
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Charcot-Marie-Tooth Disease, Type 4D
Pes cavus, Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Sensorineural hea... OMIM:601455
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Low... ORPHA:2631
Lower Motor Neuron Syndrome With Late-Adult Onset
Distal lower limb muscle weakness, Proximal muscle weakness in upper limbs, Inability to walk, Fa... ORPHA:276435
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Sensorineural hearing impairment, G... OMIM:610185
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology... ORPHA:429
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Metaphysea... ORPHA:750
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Low-set, posteriorly... ORPHA:1307
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Spinocerebellar Ataxia 43
Limb ataxia, Pes cavus, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Sensorineural hearing impairment,... OMIM:607143
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Orofaciodigital Syndrome Iv
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognath... OMIM:258860
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear... OMIM:271700
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hand metaphysis morphology, Abnormal metacarpophalangeal joint morphology, Flat capital ... ORPHA:166011
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long... ORPHA:1106
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing rib... OMIM:251230
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, L... ORPHA:2370
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Autosomal Recessive Spastic Paraplegia Type 44
Pes cavus, Difficulty walking, Lower limb spasticity, Sensorineural hearing impairment, Abnormal ... ORPHA:320401
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Prelingual sensorineural hearing impairment, Oromandibular dystonia... ORPHA:52368
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co... OMIM:620306
Microtriplication 11Q24.1
Hyperkinetic movements, Clinodactyly of the 5th finger, Genu valgum, Joint dislocation, Attached ... ORPHA:289522
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Talipes valgus, EEG with spike-wave complexes, Incoordination, Poor fine motor coor... ORPHA:36387
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Charcot-Marie-Tooth Disease Type 4D
Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Distal upper limb muscle ... ORPHA:99950
Charcot-Marie-Tooth Disease, Type 4C
Pes cavus, Delayed brainstem auditory evoked response conduction time, Difficulty walking, Hammer... OMIM:601596
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Fused cervica... ORPHA:3320
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Exostoses, Multiple, Type Ii
Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi... OMIM:133700
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Sensorineural hear... OMIM:605432
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Spinocerebellar Ataxia Type 31
Hearing impairment, Spasticity, Tremor, Gait ataxia ORPHA:217012
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Epilepsy, Progressive Myoclonic, 6
Pes cavus, Difficulty walking, EEG with spike-wave complexes, Tremor, Elevated circulating creati... OMIM:614018
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Narrow palm, Short foot, Small hand ORPHA:177910
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Abnormal pelvic girdle bone morphology, Gait disturbance, Mi... ORPHA:2928
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Gout OMIM:610947
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Pes cavus, Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor n... OMIM:158580
Coxoauricular Syndrome
Abnormal femur morphology, Microtia, Abnormal pelvic girdle bone morphology, Micromelia, Hearing ... ORPHA:1508
Femoral-Facial Syndrome
Abnormal fibula morphology, Microtia, Low-set ears, Abnormal pelvic girdle bone morphology, Coxa ... ORPHA:1988
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Broad-based gait, Metaphyseal cupping, Narr... OMIM:616716
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hearing... OMIM:182290
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Inability to walk, Hypsarrhythmia, Spasticity, Tremor, EEG ... ORPHA:599373
Temple Syndrome
Hypertriglyceridemia, Recurrent otitis media, Micrognathia, Clinodactyly, Posteriorly rotated ear... OMIM:616222
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli... OMIM:163400
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone morphology, Finger a... ORPHA:1788
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short long bone, Genu varum, Long fibula, Wide femoral metaphysis, Short palm, Metaphyseal wideni... ORPHA:2502
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Hearing impairment, Optic di... OMIM:165300
Roussy-Levy Hereditary Areflexic Dystasia
Pes cavus, Hammertoe, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased motor ner... OMIM:180800
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Radioulnar synostosis OMIM:302905
Auriculoosteodysplasia
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the earlobes, Att... ORPHA:114
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... OMIM:615127
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Carpal bone hypoplasia, Abnormal foot morphology, Cone-shaped epiph... OMIM:184252
Pentasomy X
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Camptodactyly of finger, Radio... ORPHA:11
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Madelung deformity, Radial bowing DECIPHER:58
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction... ORPHA:206443
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Pes cavus, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait a... OMIM:607317
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
X-Linked Charcot-Marie-Tooth Disease Type 1
Pes cavus, Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Tremor, Gait disturb... ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Pes cavus, Apraxia, Resting tremor, Tremor, Shuffling ... OMIM:300055
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplit... OMIM:125250
Charcot-Marie-Tooth Disease Type 1F
Fasciculations, Sensorineural hearing impairment, Optic nerve hypoplasia, Gait ataxia, Flexion co... ORPHA:101085
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... OMIM:211350
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, At... ORPHA:363400
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talipes equinovar... OMIM:119800
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Delayed somatosensory central c... OMIM:277460
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Abnormal pelvic girdle bone morphology, Elevated circulating creatine kinase co... OMIM:167320
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Hypertonia, Tremor, Transient hyperphenylalaninemia OMIM:264070
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Sensorineural hearing impairment, C... ORPHA:363710
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, Tibial bo... OMIM:307800
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Chronic otitis... OMIM:618010
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Abnormal autonomic nervous s... ORPHA:3095
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm... ORPHA:2249
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiatrophy, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Pes cavus, Hypertonia, Tremor, Overfolded helix, Low-set ears, Gait ataxia, Arachnodactyly, Ataxi... OMIM:619092
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Pes cavus, Lower limb s... ORPHA:251282
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Enlargement of the wrists, Tremor, Gait disturbance, Spastic paraple... ORPHA:83629
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Inability to walk, Tremor, Elevated cir... ORPHA:90117
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Broad finger, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evoked p... OMIM:617523
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Calcaneovalgus defor... ORPHA:93952
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Microtia, Tibial bowing, Short distal phalanx of finger, Cone-shaped epip... OMIM:210720
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Hearing impairment, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, E... OMIM:600081
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... ORPHA:2831
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom... ORPHA:2741
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Camurati-Engelmann Disease
Optic atrophy, Abnormal femur morphology, Abnormal diaphysis morphology, Abnormal tibia morpholog... ORPHA:1328
Kniest Dysplasia
Recurrent otitis media, Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossi... OMIM:156550
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Hypoalbuminemia OMIM:619013
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Difficulty walking, Arthralgia of the hip, Intervertebral disk degeneration, Abnorma... ORPHA:93311
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Moebius Syndrome
Radial deviation of finger, Dysdiadochokinesis, Abnormal pinna morphology, Split hand, Abnormal p... OMIM:157900
Cystathioninuria
Abnormal pinna morphology, Tremor, Talipes equinovarus, Cystathioninemia ORPHA:212
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... OMIM:619636
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Spastic tetrapar... ORPHA:239
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Recurrent otitis media, Rhizomelia, Ulnar ... OMIM:100800
Martsolf Syndrome 1
Talipes valgus, Slender ulna, Talipes equinovarus, Low-set ears, Short metacarpal, Clonus, Osteop... OMIM:212720
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Pes cavus, Distal lower limb muscle weakness, Difficulty walking, In... OMIM:302800
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Coxa valga, Hip dislocation OMIM:109120
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetabular roof, A... OMIM:256050
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Jeune Syndrome
Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog... ORPHA:474
X-Linked Charcot-Marie-Tooth Disease Type 4
Pes cavus, Decreased nerve conduction velocity, Tremor, Gait disturbance, Hearing impairment, Ataxia ORPHA:101078
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... ORPHA:251014
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Sensorineural hearing impairment, Femoral bowing, Micromelia, Dumbbell-shaped long bo... ORPHA:440354
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Abnormal tibia morphology, Difficulty walking, Bowing of the long bone... ORPHA:249
Holzgreve Syndrome
Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Macrotia, Hand polydactyly, Ab... ORPHA:2167
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Elbow dislocati... ORPHA:93329
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Femoral bowing, Fractures of the long bones, Bowing of the long bones... OMIM:602080
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Neurodegeneration With Brain Iron Accumulation 7
Pes cavus, Increased circulating very long-chain fatty acid concentration, Lower limb spasticity,... OMIM:617916
Smith-Magenis Syndrome
Hypertriglyceridemia, Chronic otitis media, Clinodactyly of the 5th finger, Gait disturbance, Con... ORPHA:819
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Ankle flexion contracture, Upper limb undergrowth, Tremor, Elevated circulating cr... OMIM:608799
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Adult ... ORPHA:1368
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxi... OMIM:619260
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Joint contracture of the hand, Flexion contracture of toe, Joint dislocation,... OMIM:193700
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Ti... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Ti... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Ti... ORPHA:98853
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Hyperphenylalaninemia, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor... ORPHA:2590
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Ti... ORPHA:98855
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Gai... ORPHA:99027
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia ORPHA:436182
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Slender long bone ORPHA:1506
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing ORPHA:1765
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sensorineural hearing impairment, Abnormal pelvic gird... OMIM:144750
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Wormian bones, Abnormality of the ankle, Abnormality of the knee, A... ORPHA:970
Autosomal Dominant Omodysplasia
Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar dislocation, ... ORPHA:93328
Autosomal Dominant Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Paresis of extensor muscles of the big toe, Generalized dystonia, Pe... ORPHA:98808
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Phenylketonuria
Lower limb spasticity, Hyperphenylalaninemia, Tremor, Ataxia, EEG abnormality ORPHA:716
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Wormian bones, Pes planus, Short 5... OMIM:619638
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea... OMIM:618395
Grant Syndrome
Joint dislocation, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Micrognathia... ORPHA:2097
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Pes cavus, Delayed brainstem auditory evoked response conduction ti... ORPHA:206448
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Knee flexion contracture,... OMIM:618019
Marshall Syndrome
Small distal femoral epiphysis, Small proximal tibial epiphyses, Recurrent otitis media, Clinodac... OMIM:154780
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Fibular bowing, Difficulty walking, Delayed epiphyseal ossification, En... OMIM:241530
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Pes cavus, Clinodactyly of the 5th finger, Tremor, Bilateral sensorineural hearing... OMIM:619422
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Fibular bowing, Difficulty walking, Delayed epiphyseal ossification, Enlar... OMIM:277440
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Ataxia, Abnormality of the plantar skin of... ORPHA:909
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of the upper limb, Tremor, Abnormality ... ORPHA:65684
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... OMIM:218000
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Abnormal foot morphology, Hammertoe, Sandal gap, Joint dislocation, Hallux ... ORPHA:536532
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Recurrent ot... OMIM:164745
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... OMIM:618587
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... ORPHA:2557
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Orofaciodigital Syndrome Type 2
Protruding ear, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger s... ORPHA:2751
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Pes cavus, Abnormal nerve conduction velocity, Tremor, Gait disturbance, Parapares... ORPHA:99014
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bilateral talipes ... OMIM:618022
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, A... OMIM:617925
Mandibuloacral Dysplasia
Hypertriglyceridemia, Short clavicles, Delayed cranial suture closure, Osteolytic defects of the ... ORPHA:2457
Sheldon-Hall Syndrome
Bilateral single transverse palmar creases, Protruding ear, Tarsal synostosis, Abnormal hip bone ... ORPHA:1147
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Fasciculations, Tetraplegia, Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, H... OMIM:604484
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Hyporeflexi... ORPHA:98763
Xp21 Deletion Syndrome
Hypertriglyceridemia, Recurrent otitis media, Spasticity, Calf muscle hypertrophy, Elevated circu... ORPHA:261476
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Sensorineural hearing impairment, Absent br... ORPHA:1215
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Bilateral sensorineural hea... OMIM:605282
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Flared metaphysis, Facial palsy, Abnormal pelvic girdle bone morphology... OMIM:123000
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, EEG with generalized slow activity grad... ORPHA:79263
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, Elevated circulating creatine ki... OMIM:159950
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease, Craniosynostosis OMIM:218550
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip... ORPHA:3130
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Fibular bowing, Difficulty walking, Delayed epiphyseal ossification, Enlar... OMIM:264700
Spinocerebellar Ataxia 18
Babinski sign, Pes cavus, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm... ORPHA:363417
Atypical Juvenile Parkinsonism
Bradykinesia, Pes cavus, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia... ORPHA:391411
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Hypertonia, Pes cavus, Steppage gait, Tremor, Gait ataxia, Intentio... OMIM:616505
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Heari... OMIM:617145
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Hoffmann sign, Babinski sign, Carpal bone hypoplasia, Pes cavus, Lower limb spastic... OMIM:601162
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Low-frequency sensorineural h... OMIM:613101
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Abnormal pinna morphology, Femoral... OMIM:207410
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Hypertonia, Decreased HDL cholesterol concentration, Tetraplegia, Hypoprote... OMIM:267700
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Anteverted ears, Gait disturbance, Postaxial polydactyly, Macrotia, Ataxia, Poor coordina... ORPHA:544254
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Epiphyseal stippling, Optic nerve hypoplasia, Stippled calcification proximal humeral... OMIM:222765
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, EEG wi... ORPHA:254881
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Pes cavus, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Elevated circulating ... OMIM:208920
Saccharopinuria
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperammonemia,... ORPHA:3124
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Small earlobe, Femoral bowing, Short ribs, Arachnodactyly, S... OMIM:600920
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality OMIM:617836
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Spasticity, Tremor, Intention tre... OMIM:614307
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone,... OMIM:151210
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Tibial Hemimelia
Absent tibia OMIM:275220
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Tremor... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Hypoplastic... OMIM:228520
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab... ORPHA:2319
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Hyperkinetic movements, Sensorineural hearing impairment, Spasticity, Tremor, Ga... OMIM:300957
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Hyperextensibility of the finger joints, Abnormal pelvic girdle... OMIM:610967
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Prominent protruding coccyx, Tremor, Low-set ears, Hearing impairment, Micr... ORPHA:480907
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Decreased nerve conduction velocity, Difficult... ORPHA:329478
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Sho