Gene: Col9a2 MGI:88466

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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 radius morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.57×10-08
abnormal femur morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-14
decreased prepulse inhibition Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 5.44×10-09
abnormal pelvic girdle bone morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.53×10-08
abnormal humerus morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.86×10-14
abnormal tibia morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 6.01×10-13
increased circulating triglyceride level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 6.33×10-06
abnormal ear morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 1.02×10-12
increased circulating alkaline phosphatase level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 4.83×10-05
abnormal ulna morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.65×10-14
tremors Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 1.48×10-06
short tibia Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 8.91×10-11
abnormal auditory brainstem response Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 9.71×10-07
abnormal joint morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.86×10-14

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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.

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel A 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
Dislocated radial head, Abnormal morphology of the radius, Congenital hip dislocation, Radioulnar... ORPHA:3269
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Hypop... OMIM:200700
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... ORPHA:240
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Spastic paraplegia, Finger syndactyly, Spasticity, Bilateral single transverse palmar creases, Ab... ORPHA:1891
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Talipes equinovalg... OMIM:605274
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Elevated ci... OMIM:160120
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Acheiropody
Absent hand, Absent forearm, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplasia of... OMIM:200500
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Spinal Muscular Atrophy, Jokela Type
Tremor, Pes planus, Pes cavus, Elevated circulating creatine kinase concentration, Fasciculations... OMIM:615048
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Babinski sign OMIM:300660
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Sensorineural hearing impairment, Clinod... ORPHA:71289
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Short long bone, Flared metaphysi... OMIM:146000
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... OMIM:602111
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality... ORPHA:2768
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Antecubital pterygium, Apl... ORPHA:93320
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... ORPHA:2632
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Delayed epiphyseal ossification, Limited ... OMIM:600969
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly of the 5th finger OMIM:618010
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Double-layered patella, Shor... ORPHA:93307
Coxopodopatellar Syndrome
Abnormality of the knee, Hip dysplasia, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o... ORPHA:1509
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the metacarpal bones, Hand oligodactyly, Abnormality of the ulna, Cl... ORPHA:3104
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Conduct... OMIM:171480
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Syndactyly, Absent radius, Patel... OMIM:135750
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip dysplasia, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis,... ORPHA:99642
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of epiphysis morphology, Abno... ORPHA:166002
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Absent Achilles reflex, Babinski sign, Optic atrophy OMIM:311050
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem... OMIM:609324
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Micrognathia, Posteriorly rotated ears, Fibular hy... OMIM:201170
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Short 2nd metacarpal, Upper limb phocomelia, Conductive hearing impairment, Apl... ORPHA:2878
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Abnormality of femur morphology, Abnor... ORPHA:1802
Auriculoosteodysplasia
Hip dysplasia, Dislocated radial head, Attached earlobe OMIM:109000
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossification, Ab... ORPHA:1856
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Ir... OMIM:142669
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Tibial Aplasia-Ectrodactyly Syndrome
Postaxial hand polydactyly, Preaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Stuve-Wiedemann Syndrome
Short phalanx of finger, Elbow flexion contracture, Femoral bowing, Micrognathia, Thickened corte... OMIM:601559
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Cupped ear, Hand monodactyly, Split foot,... OMIM:119100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus, Spasticity OMIM:615924
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Bowing of the l... ORPHA:2501
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short metacar... OMIM:226900
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteoporotic tarsals, B... OMIM:609052
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Distal Arthrogryposis Type 1
Overlapping fingers, Camptodactyly of finger, Rocker bottom foot, Talipes, Abnormal hip bone morp... ORPHA:1146
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601382
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Radial head sublu... ORPHA:2634
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Abnormality of the pinna, Short ... OMIM:607143
Exostoses, Multiple, Type I
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133700
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Overfolded helix, Low-set, posterio... ORPHA:2631
Temple Syndrome
Hypercholesterolemia, Posteriorly rotated ears, Hypertriglyceridemia, Clinodactyly, Small hand, S... OMIM:616222
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Exostoses, Multiple, Type Ii
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133701
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Hypochondroplasia
Short toe, Abnormality of the elbow, Bowing of the long bones, Genu varum, Abnormality of femur m... ORPHA:429
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Sensorineural hearing impairment, Syndactyly, Proximal radio-ulnar s... OMIM:605432
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Acromesomelia, Bilateral si... ORPHA:968
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... OMIM:616516
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Pes cavus, Dysmetria, Elevated circulating creatine kinase concentra... OMIM:618387
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Micrognathia, Forearm undergrowth, Absen... OMIM:251230
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Absent humerus, Elbow dislocation, Micrognathia, Ulnar... ORPHA:56305
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor, Abnormal foot morphology OMIM:614369
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Synostosis of joints, Elbow dislocat... ORPHA:321
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis, Hip subluxation, ... ORPHA:356961
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Mic... ORPHA:1278
Coronary Artery Disease, Autosomal Dominant 2
Gout, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Knee joint hypermobility... ORPHA:93308
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Sensorineural hearing i... OMIM:610717
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Low-set, posteriorly rotated ears, Abnormality of the metacarpal bones, Abnormalit... ORPHA:2370
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the... ORPHA:971
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Low-set, posteriorly rotated ears, Bowing of the long bones, Sandal gap, A... ORPHA:2725
Robin Sequence With Cleft Mandible And Limb Anomalies
Radial deviation of the hand, Hypoplasia of the radius, Hip subluxation, Short phalanx of finger,... OMIM:268305
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Talipes, Broad hallux phalanx, Hypoplas... ORPHA:2249
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Auriculoosteodysplasia
Hip dysplasia, Macrotia, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasi... ORPHA:114
Smith-Magenis Syndrome
Hypercholesterolemia, Broad palm, Abnormality of the forearm, Pes planus, Morphological abnormali... OMIM:182290
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Aase-Smith Syndrome
Camptodactyly of finger, Abnormality of the pinna, Aplasia/Hypoplasia of the radius, Abnormal hip... ORPHA:916
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Rhizomelia, Sandal ... OMIM:108721
X-Linked Charcot-Marie-Tooth Disease Type 3
Hip dysplasia, Tremor, Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic paraparesis, ... ORPHA:101077
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Microtriplication 11Q24.1
Genu valgum, Speech apraxia, Hyperkinetic movements, Attached earlobe, Posteriorly rotated ears, ... ORPHA:289522
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbuminemia OMIM:241600
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Limited elbow flexion/extension, Short 1st met... OMIM:164745
Shox-Related Short Stature
Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Abnormality of femur morphology, Hip ... ORPHA:1508
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dislocation, Abnor... ORPHA:93316
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Micrognathia, Low-set, posteriorly rotated ears,... ORPHA:3320
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Multiple Epiphyseal Dysplasia, Beighton Type
Hip dysplasia, Genu valgum, Abnormalities of the metaphyses of the hand, Abnormal hip joint morph... ORPHA:166011
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Thoracomelic Dysplasia
Genu valgum, Elbow dislocation, Limb undergrowth, Short ribs, Abnormality of the metaphysis, Abno... ORPHA:1803
Thalidomide Embryopathy
Anotia, Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/h... ORPHA:3312
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Pes cavus, Rigidity OMIM:617018
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbow extension, Short ... OMIM:210720
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Transient hyperphenylalaninemia, Cogwheel rigidity, Gait ata... OMIM:128230
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short palm, Bowing of the legs, Antecubital pterygium, Short femoral neck, Equinovarus deformity,... ORPHA:2502
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Dysspondyloenchondromatosis
Genu valgum, Enlarged joints, Metaphyseal enchondromatosis, Joint dislocation, Abnormality of uln... ORPHA:85198
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction velocity, Proximal muscl... ORPHA:276435
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of c... OMIM:609616
Trisomy 4P
Camptodactyly of finger, Abnormality of the antihelix, Radial club hand, Preaxial hand polydactyl... ORPHA:1738
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Overfolded helix, Flare... OMIM:609945
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment, Optic atrophy, Optic di... OMIM:165300
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Epiphyseal dysplasia, Genu varum, Flattened epiphysis, Knee osteoarthritis, ... OMIM:600204
Grant Syndrome
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones, Hypoplastic pe... ORPHA:93351
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Gabriele-De Vries Syndrome
Posteriorly rotated ears, Tremor, Abnormality of the pinna, Long fingers OMIM:617557
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Transient hyperphenylalaninemia, Hypertonia, Tremor OMIM:264070
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Short 1st metacarpal, Metatarsus adductus, Abnor... OMIM:201050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Metaphyseal irregularity, Carpal bone hypopla... OMIM:618395
Omodysplasia 1
Limited elbow extension, Axillary pterygium, Hypoplastic distal humeri, Limited knee extension, R... OMIM:258315
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Pes cavus, Upper limb post... OMIM:180800
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Abnormality of the pinna, Osteolytic defects of the phalan... OMIM:277150
Spastic Paraparesis And Deafness
Hearing impairment, Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 31
Hearing impairment, Gait ataxia, Tremor, Spasticity ORPHA:217012
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity, Ulnar deviation of finger, Abnormal... ORPHA:2928
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... OMIM:184253
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis, Pes cavus OMIM:158580
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Nail-Patella Syndrome
Quadriceps aplasia, Limited elbow extension, Triceps aplasia, Biceps aplasia, Talipes equinovarus... OMIM:161200
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Small hand, Short foot, ... OMIM:617435
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Pes planus, Narrow pelvis ... OMIM:610797
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia ORPHA:1765
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... ORPHA:2831
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Small hand, Dysmetria, Short foot, Short palm OMIM:610185
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Orthostatic hypotension, Hypertriglyceridemia, Dysmetria, Babi... OMIM:606721
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Craniosynostosis, Camptodactyly of toe, Ulnar bo... OMIM:600920
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Clinodactyly, Syndactyly, Pes cavus, M... OMIM:619092
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Sensorineur... OMIM:144750
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, EEG with spike-wave complexes, Limited knee extension, Pes planus, Poor f... ORPHA:36387
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Elbow dislocation, Micr... OMIM:108720
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Myoclonus, Enha... OMIM:613608
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus, Jerk-locked premyoclonus spikes OMIM:615127
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Abnormality of fibula morphology, Elbow dislocation, Tal... ORPHA:2557
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Pate... OMIM:119800
Weismann-Netter Syndrome
Squared iliac bones, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing OMIM:112350
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Enlarged joints, Short phalanx of fin... ORPHA:1427
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Ataxia, Lower limb spasticity, Abnormal auditory evoked potenti... ORPHA:320401
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Conductive hearing impairment, Rhizomelia, Atr... OMIM:602471
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Hitchhiker thumb, Short middle phalanx of finger, Short greater sciatic no... OMIM:256050
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Hypoplasia of the ul... ORPHA:2804
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hype... ORPHA:363400
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Tibial ... OMIM:600081
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Ap... ORPHA:1788
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Abnormality of th... ORPHA:3035
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
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Elbow dislocation, Rhizomelia, Abnormality of the ra... ORPHA:93329
Pallister W Syndrome
Radial bowing, Cubitus valgus, Pes planus, Camptodactyly, Hypoplasia of the ulna, Radial deviatio... OMIM:311450
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Fatiguable weakness of proximal limb muscles, A... ORPHA:90117
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Ataxia, Hearing impairment, Pes cavus, Distal upper l... ORPHA:101075
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Hypoalbuminemia OMIM:619013
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Hearing impairment, Abnormal auditory evoked potentials, Decreased ner... OMIM:601455
Distal Monosomy 17Q
Abnormal thumb morphology, Low-set, posteriorly rotated ears, Micromelia, Upper limb asymmetry, B... ORPHA:1597
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foot morphology OMIM:236640
Phocomelia, Schinzel Type
Radial bowing, Humeroradial synostosis, Abnormality of tibia morphology, Hypoplasia of the radius... ORPHA:2879
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Sandal gap,... OMIM:311300
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Small hand, Hand apraxia, Tongue thrusting, EE... ORPHA:3095
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Atresia of the external auditory canal, Limb undergrowth, A... ORPHA:3429
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Lambdoidal craniosynostosis, Camptodactyly, Abnormal... OMIM:207410
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations, Distal upper limb amyotrophy,... ORPHA:65684
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Atresia of the external auditory canal, Forearm ... OMIM:614900
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Sheldon-Hall Syndrome
Overlapping fingers, Tarsal synostosis, Micrognathia, Aplasia/Hypoplasia of the radius, Bilateral... ORPHA:1147
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Hypoplastic sacrum, Hypoplastic pelvis, Carpal bone hypopla... OMIM:304950
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Marshall Syndrome
Radial bowing, Absent frontal sinuses, Micrognathia, Wide tufts of distal phalanges, Hypoplastic ... OMIM:154780
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Pes cavus, Myoclonus, Babinski sign, Fasciculations, Frequent falls,... OMIM:607317
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Low-set, posteriorly rotated ears, Abnormality of pelvic girdle bone morphology ORPHA:1506
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Involuntary movements, Parkinsonism with favorable response to dop... ORPHA:240103
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Sensorine... ORPHA:440354
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Short metacar... OMIM:617604
Autosomal Dominant Omodysplasia
Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Patellar disloc... ORPHA:93328
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Wormian bones, Foot acroosteolysis, Abnormality of epiphysis morphology,... ORPHA:970
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Foot oligodactyly... OMIM:206920
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Conductive hearing impairment, Low-set, posteriorly rotated ears... ORPHA:1307
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Limited elbow extension, Genu valgum, Rhizomelia, Short long bone, Abnorma... ORPHA:239
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Pes cavus, Abnormality of the hand, Abnormal foot morphology OMIM:616668
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Abnormality of the pinna, Hypoplasia of the ulna, Syndactyly, Micrognathia OMIM:228940
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Absent frontal sinuses, Pe... OMIM:265800
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Palmoplantar keratoderma ORPHA:2206
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic ... OMIM:125250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis, Single transverse palmar crease OMIM:218550
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia ORPHA:436182
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Moebius Syndrome
Dysdiadochokinesis, Facial diplegia, Clumsiness, Short phalanx of finger, Split hand, Camptodacty... OMIM:157900
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Upper limb undergrowth, Camptodactyly, Short palm, Ataxia, Small hand, EEG abnormality, K... OMIM:608799
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Talipes cavus equinovarus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearin... ORPHA:139485
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Classical-Like Ehlers-Danlos Syndrome Type 2
Dislocated wrist, Elbow dislocation, Radioulnar dislocation, Phalangeal dislocation, Macrotia, Pe... ORPHA:536532
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Shoulder flexion contracture, Flexion contracture of finger, Camptodactyly, F... OMIM:193700
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Bowing of the long bones, Joint dislocation, Mic... ORPHA:2097
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Cystathioninuria
Talipes equinovarus, Tremor, Cystathioninemia ORPHA:212
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Hypertonia, Spasti... ORPHA:251282
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Elevated circulating creati... OMIM:615673
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Club-shaped distal femur, Facial palsy, Mixed hearing i... OMIM:123000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Abnormality of the pinna, Hypoplastic pubic bone, Sh... OMIM:617925
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor, Absent Achilles reflex OMIM:182920
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Elevated circulating creatine kinase con... OMIM:612953
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Micrognathia, Short 1st ... OMIM:619135
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Low-frequency sensorineural h... OMIM:613101
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Micrognathia, Rhizom... OMIM:260660
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Large knee, Enlargement of the wrists, ... ORPHA:83629
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Ankle clonus, Bradykinesia, Parkinsonism, Babinski sign, Hypermanganesemia, Scissor gait,... ORPHA:521406
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Abnormal pyramidal sign, Ankle clonus, Absent brainstem auditory responses, Sens... ORPHA:52368
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Smith-Magenis Syndrome
Hypercholesterolemia, Toe syndactyly, Hand polydactyly, Conductive hearing impairment, Pes planus... ORPHA:819
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnormality of finger, Abnormali... ORPHA:2319
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Abnormality of ulnar metaphysis, Short foot ORPHA:177910
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Dravet Syndrome
Cogwheel rigidity, Incoordination, EEG with focal epileptiform discharges, Limited knee extension... ORPHA:33069
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp... ORPHA:3258
Tibial Hemimelia
Absent tibia OMIM:275220
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Trisomy X
Hip dysplasia, Tremor, Clinodactyly of the 5th finger ORPHA:3375
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Sensorineural hear... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Micrognathia, Hypoplasia of the ulna, Microtia ORPHA:357175
Satoyoshi Syndrome
Abnormality of the knee, Abnormality of femur morphology, Abnormality of epiphysis morphology, Ab... ORPHA:3130
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Rhyns Syndrome
Conductive hearing impairment, Short femoral neck, Radial bowing, Brachydactyly OMIM:602152
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hyperphenylalaninemia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Osteogenesis Imperfecta, Type V
Wormian bones, Pes planus, Anterior radial head dislocation, Abnormality of pelvic girdle bone mo... OMIM:610967
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Rhizomelic Chondrodysplasia Punctata, Type 2
Stippled calcification proximal humeral epiphyses, Rhizomelia, Short humerus, Micrognathia, Abnor... OMIM:222765
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Gait ataxia, Proximal lowe... ORPHA:101085
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Elbow dislocation, Pes planus, Bilateral single transverse palmar crease... OMIM:143095
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Intervertebral disc degeneration, Abnormality of upper limb epiphysis... ORPHA:93311
Sc phocomelia syndrome
Wormian bones, Aplasia of the ulna, Radial deviation of finger, Posteriorly rotated ears, Clinoda... OMIM:269000
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bulging epiphyses, Hypocalcemic seizures, Subperiosteal bone resorptio... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Hypopho... OMIM:241530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, M... OMIM:218000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Micrognathia, Hypoplasia of the ulna, Cupped ear, Absent radius, A... ORPHA:1352
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Hand muscle weakness, Incoordination, Hand tremor, Absent Achilles reflex, Decreased moto... OMIM:302800
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Talipes equinovarus, Frequent falls, Spasticity OMIM:616719
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Behr Syndrome
Tremor, Ataxia, Achilles tendon contracture, Dysmetria, Babinski sign, Progressive spasticity, Op... OMIM:210000
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Hearing impairment, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Mental Retardation, Autosomal Recessive 35
Clinodactyly, Micrognathia, Hypoplasia of the ulna, Microtia OMIM:615162
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Hypocalcemic seizures, Subperiosteal bone resorptio... OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Hypophosphatemia, Metaphyseal irregularity, Hypopho... OMIM:300554
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
X-Linked Emery-Dreifuss Muscular Dystrophy
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Achilles tendon... ORPHA:98863
Juberg-Hayward Syndrome
Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnorma... OMIM:216100
Emery-Dreifuss Muscular Dystrophy
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Achilles tendon... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Achilles tendon... ORPHA:98853
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Widely patent coronal suture, Hypoplas... OMIM:228520
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Bowing of the long bones, Tetraparesis, Bilateral conductive hearing impairment, Fra... OMIM:602080
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Interphalangeal joint c... ORPHA:96334
X-Linked Intellectual Disability, Hedera Type
Absent Achilles reflex, Apraxia, Extrapyramidal muscular rigidity, Hyporeflexia of upper limbs, P... ORPHA:93952
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Ataxia OMIM:614018
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Hearing impairment, Pes cavus, Decreased nerve conduction velocity ORPHA:101078
Osteogenesis Imperfecta, Type Ii
Wormian bones, Broad long bones, Tibial bowing, Crumpled long bones, Abnormality of pelvic girdle... OMIM:166210
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Xp21 Deletion Syndrome
Finger clinodactyly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ca... ORPHA:261476
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormality of the ulna, Abnormality of the metacarpal bones ORPHA:2233
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Facial paralysis, Facial palsy, Fractures of the long bones, Abnormality of p... OMIM:166600
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Hyporeflexia of lower limbs, Progressive cerebellar ataxia, Myo... ORPHA:98763
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Calf muscle hypertrophy ORPHA:280356
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Broad hallux phalanx, Sandal gap, Sensorineural hearing im... ORPHA:959
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Achilles tendon... ORPHA:98855
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
4Q21 Microdeletion Syndrome
Tremor, Toe syndactyly, Hearing impairment, Small hand, Stereotypy, Short foot, Short palm, Micro... ORPHA:238750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Flared iliac wing, Pes planus, Metatarsus adductus, Short femo... OMIM:271640
Tetraploidy
Radial club hand, Micrognathia, Hypoplasia of the ear cartilage ORPHA:3305
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Acrocraniofacial Dysostosis
Genu valgum, Abnormality of the middle ear ossicles, Craniosynostosis, Abnormality of the malleus... ORPHA:949
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Overlapping toe, Short metacarpal, Small epiphyses, Proximal femoral epiphysiol... OMIM:616723
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Low-set, posteriorly rotated ear... ORPHA:958
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Toe clinodactyly, S... ORPHA:457395
Radius, Aplasia Of, With Cleft Lip/Palate