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 2.53×10-08
abnormal femur morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.49×10-14
abnormal ulna morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.54×10-14
increased circulating triglyceride level Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 6.33×10-06
abnormal humerus morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.78×10-14
abnormal tibia morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.83×10-13
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
abnormal ear morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 8.36×10-13
tremors Col9a2tm1b(EUCOMM)Wtsi HOM   Early adult 1.22×10-06
abnormal pelvic girdle bone morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 5.88×10-08
abnormal joint morphology Col9a2tm1b(EUCOMM)Wtsi HOM Early adult 2.78×10-14
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

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel B FCS file(s)

7 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
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Abnormality of ulnar metaphysis, Abnormality o... ORPHA:1040
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Spastic parapleg... ORPHA:1891
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Dislocated radial head, Abnormal foot morphology, Fib... OMIM:605274
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Spinal Muscular Atrophy, Jokela Type
Hammertoe, Pes planus, Fasciculations, Elevated circulating creatine kinase concentration, Pes ca... OMIM:615048
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Abnormal morphology of ulna, Short tibia, Sho... ORPHA:93323
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Metaphyseal chondrodysplasia, Spastic paraplegia, Tremor OMIM:300660
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Radioulnar s... ORPHA:71289
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... OMIM:602111
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiph... ORPHA:2768
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Hypertriglyceridemia OMIM:618010
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Short metacarpal, Mildly elevated creatine kinase, Osteoarthritis, Limited k... OMIM:600969
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Coxopodopatellar Syndrome
Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology, Abnormality of... ORPHA:1509
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Micrognathia, Abnorma... ORPHA:3104
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Short femoral neck, Broad radial metaphysis, Wide distal femoral metaphysis, ... ORPHA:99642
Optic Atrophy 2
Absent Achilles reflex, Dysdiadochokinesis, Babinski sign, Optic atrophy, Tremor OMIM:311050
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hypertriglyceridemia, Myoclo... OMIM:615924
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... OMIM:609324
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Conductive hearing imp... ORPHA:2878
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Low-set ears, Fibular hypoplasia, 11 pairs of ribs... OMIM:201170
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Auriculoosteodysplasia
Dislocated radial head, Hip dysplasia, Attached earlobe OMIM:109000
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Bowing of the long bones, Single transverse palmar crease, Me... OMIM:601559
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Shallow acetabular fossae, Irregular capital femoral epiphysis, B... OMIM:142669
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Ring Chromosome 4 Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the upper limb ORPHA:1447
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Cupped ear, Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypopl... OMIM:119100
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radioulnar dislocation, Fibular hypoplasia, Elbow dislocation, Ulnar deviated club ha... OMIM:164900
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Talipes equinovarus, Decreased motor nerve con... OMIM:601382
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormality of fibula morphology, Abnormal... ORPHA:1837
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Talipes, Rocker bottom foot, Overlapping fingers, Adducted thumb, U... ORPHA:1146
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Low-set ears, Oligodactyly, Micrognathia, Micromelia, Short tibi... OMIM:251230
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Sandal gap, Sensorineural hearing impairment, Hypocalcemia, Hypoplasia of the radius,... OMIM:607143
Temple Syndrome
Clinodactyly, Hypercholesterolemia, Micrognathia, Posteriorly rotated ears, Small hand, Hypertrig... OMIM:616222
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Shallow acetabular fossae, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Ulna... OMIM:605432
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Pes cavus, Palmoplantar hyperkeratosis, Spastic paraplegia, Tremor OMIM:309560
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... ORPHA:968
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Hammertoe, Ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Pe... OMIM:618387
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Abnormal foot morphology, Mildly elevated creatine kinase, Tremor OMIM:614369
Atelosteogenesis Type Iii
Absent humerus, Vertebral hypoplasia, Absent radius, Ulnar deviation of the wrist, Elbow dislocat... ORPHA:56305
Slc35A2-Cdg
EEG with focal epileptiform discharges, Aplasia/hypoplasia involving bones of the extremities, Cr... ORPHA:356961
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Exostoses, Multiple, Type Ii
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133700
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Coronary Artery Disease, Autosomal Dominant 2
Gout, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Dystonia, Dopa-Responsive
Incoordination, Transient hyperphenylalaninemia, Dystonia, Resting tremor, Bradykinesia, Cogwheel... OMIM:128230
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... ORPHA:93314
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Fasciculati... OMIM:610717
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hearing impairment, Hypercholester... OMIM:144300
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Acrorenal Syndrome
Abnormality of the ulna, Micrognathia, Abnormality of tibia morphology, Split hand, Aplasia/Hypop... ORPHA:971
Brachymesomelia-Renal Syndrome
Single transverse palmar crease, Low-set ears, Fibular hypoplasia, Hypoplasia of the radius, Micr... OMIM:113470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Hammertoe, Decreased sensory nerve conduction velocity, Pes cavus, Decreased motor ne... OMIM:609260
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Incr... ORPHA:750
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Low-... ORPHA:2370
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Broad... ORPHA:1278
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Low-set ears, Hand polydactyly, Mi... OMIM:258860
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Talipes, Hypoplasia of the radius, Elbow dislocation, Metatarsus adductus... ORPHA:2249
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviat... OMIM:268305
Atelosteogenesis, Type Iii
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Elbow dislocat... OMIM:108721
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Abnormal pinna morphology, Camptodactyly of finger,... ORPHA:916
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Talipes, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
X-Linked Charcot-Marie-Tooth Disease Type 3
Pes valgus, Intrinsic hand muscle atrophy, Abnormal foot morphology, Spastic paraparesis, Equinov... ORPHA:101077
Auriculoosteodysplasia
Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Macrotia, Attached earlobe, Abnormality of... ORPHA:114
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... OMIM:164745
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Kyphomelic Dysplasia
Pterygium, Low-set ears, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, ... OMIM:211350
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Microtriplication 11Q24.1
Hyperlipidemia, Hearing impairment, Clinodactyly of the 5th finger, Joint dislocation, Metatarsus... ORPHA:289522
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Immunodeficiency 43
Hypoproteinemia, Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia OMIM:241600
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Coxoauricular Syndrome
Abnormality of pelvic girdle bone morphology, Atresia of the external auditory canal, Microtia, A... ORPHA:1508
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Micrognathia, Lower limb underg... ORPHA:314795
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Gabriele-De Vries Syndrome
Long fingers, Dystonia, Posteriorly rotated ears, Tremor OMIM:617557
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Pes cavus, Rigidity, Limb ataxia, Tremor OMIM:617018
Dysspondyloenchondromatosis
Enlarged joints, Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Joint disloca... ORPHA:85198
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Conductive he... OMIM:304120
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Smith-Magenis Syndrome
Brachydactyly, EEG abnormality, Short palm, Hypercholesterolemia, Abnormality of the forearm, Pes... OMIM:182290
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micromelia, Abnorma... ORPHA:1263
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Fibular hypoplasia, Short 5th f... OMIM:227270
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Broad palm, Broad femoral metaphyses, Metaphyseal widening, Bowing... ORPHA:2502
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Spasticity, Small hand... OMIM:617435
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Abnormality of extrapyramidal motor function, Optic atrophy, Hearing impairmen... OMIM:165300
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Low-set ears, Preaxial foot polydactyly, Abnormalit... ORPHA:1988
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Acromesomelic Dysplasia 4
Genu varum, Broad toe, Prominent deltoid tuberosities, Metaphyseal irregularity, Broad phalanx, L... OMIM:619636
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Choreoathetosis, Sensorineural hearing impairment, Ankle flexion contracture, Fa... OMIM:617519
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Genu varum, Flattened epiphysis, Short palm, Knee osteoarthritis, Flattened ... OMIM:600204
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Ravine Syndrome
Abnormal auditory evoked potentials, Spasticity, Ataxia ORPHA:99852
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Sensorineural hearing impairment, Metatarsus add... OMIM:201050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short femoral neck, Dislocated radial head, Pes... OMIM:618395
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Grant Syndrome
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia OMIM:138930
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Trisomy 4P
Radial club hand, Low-set, posteriorly rotated ears, Preaxial hand polydactyly, Abnormal antiheli... ORPHA:1738
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia OMIM:264070
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hammertoe, Gait ataxia, Pes cavus, Decreased motor nerve conduction velocity, Uppe... OMIM:180800
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tib... OMIM:119800
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Hearing impairment, Tremor ORPHA:217012
Nail-Patella Syndrome
Iliac horns, Quadriceps aplasia, Disproportionate prominence of the femoral medial condyle, Absen... OMIM:161200
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Micromelia, Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius ORPHA:1765
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Pes cavus, Vocal cord paralysis, Tremor OMIM:158580
Omodysplasia 1
Popliteal pterygium, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Axillary pterygi... OMIM:258315
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Decreased nerve conduction velocity,... ORPHA:2928
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radiu... ORPHA:75508
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Van Den Ende-Gupta Syndrome
Narrow foot, Craniosynostosis, Elbow flexion contracture, Dislocated radial head, Slender metacar... OMIM:600920
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Enhancement of the C-reflex, ... OMIM:613608
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Enlarged joints, Delayed ossification of carpal bo... OMIM:184252
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Abnormal pyramidal sign, Dystonia, Focal dystonia... ORPHA:52368
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Pes planus, Bradykinesia, EEG with spike-wave complexes, Limited knee extension, ... ORPHA:36387
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Short palm, Small hand, Dysdiadochokinesis, Truncal ataxia, Short foot, Tremor OMIM:610185
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Jerk-locked premyoclonus spikes, Myoclonus, Tremor OMIM:615127
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Ataxia, Limb dystonia, Gait ataxia, Poor motor coordinatio... ORPHA:363400
Acromesomelic Dysplasia 1
Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metata... OMIM:602875
Endosteal Hyperostosis, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, Thickene... OMIM:144750
Intellectual Developmental Disorder, X-Linked, Syndromic 13
EEG with generalized slow activity, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoa... OMIM:300055
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Hypertonia, Low-set ears, Tremor, Ataxia, Arachnodactyly, Gait ataxia, Pes cavus, O... OMIM:619092
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Pes cavus, Spasticity, Babinski si... OMIM:607317
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Irregular capital femoral epiphysis, Short femoral n... OMIM:616716
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Ankle clonus, Dysmetria, Sensorineural hearing impairment, Poor coordination, Spasticity, Clumsin... OMIM:270500
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormality of ... ORPHA:83468
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Talipes, Clinodactyly of the 5th finger, Abnormality of fibul... ORPHA:2557
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Short r... OMIM:613091
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Progressive conductiv... OMIM:186500
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short metatarsal, S... OMIM:108720
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Lower limb spas... ORPHA:320401
Cystathioninuria
External ear malformation, Talipes equinovarus, Cystathioninemia, Tremor ORPHA:212
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Atypical Rett Syndrome
EEG abnormality, Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary... ORPHA:3095
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Fibular bowing, Lateral femoral bowing OMIM:112350
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Low-set ears, Mesomelic leg shorteni... ORPHA:93333
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Autosomal Recessive Omodysplasia
Craniosynostosis, Pterygium, Low-set ears, Rhizomelia, Elbow dislocation, Micrognathia, Micromeli... ORPHA:93329
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... ORPHA:3035
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Hypermanganesemia, Sc... ORPHA:521406
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Enlarged joints, Short metacarpal, Sandal gap, Fl... ORPHA:1427
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Pes planus, Elbow dislocation, Metatarsus adductus, Pes cav... ORPHA:2804
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Conductive hearing impairment, Atr... OMIM:602471
Marshall Syndrome
Small proximal tibial epiphyses, Irregular distal femoral epiphysis, Coxa valga, Irregular proxim... OMIM:154780
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Micrognath... OMIM:256050
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Distal ulnar hypoplasia, Micrognathia OMIM:277150
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601455
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Coxa valga, Hip dislocation OMIM:109120
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Pes planus, Metatarsus adductus, Pes cavus, Spasticity, Cub... OMIM:311450
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... OMIM:617866
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Limb fasciculations, Abnormal peripheral action potenti... ORPHA:90117
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Talipes cavus equinovarus, Dystonia, Progressive cerebellar ataxia, Myoc... ORPHA:139485
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Enlar... OMIM:600081
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Pes cavus, Distal upper limb amyotrophy, Hearing impa... ORPHA:101075
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Low-set ears, Atresia of the ext... ORPHA:3429
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Proximal radial head dis... OMIM:602418
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Hip dislocation, Syno... OMIM:311300
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Limitation of movement at ankles, Abnormality of ... ORPHA:206594
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of the upper limb, Abnormality of perip... ORPHA:65684
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Atresia of the external auditory canal, Hypoplasia of the r... OMIM:614900
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Hypoplastic sacrum, Short femoral neck, Cone-shaped epiphyses of the phalange... OMIM:304950
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia,... ORPHA:251282
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Elevated circulating creatine kinase concentration... OMIM:612953
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Sheldon-Hall Syndrome
Abnormal hip bone morphology, Round ear, Overlapping fingers, Micrognathia, Adducted thumb, Tarsa... ORPHA:1147
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology, Low-set, posteriorly rotated ears ORPHA:1506
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Sensorineural hearing impairment, Hypoplastic scapulae, Micrognathia, ... ORPHA:440354
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor, Hypsarrhythmia OMIM:619561
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Spastic tetraparesis, Abnormal pelvis bone morphology, Broad femora... ORPHA:239
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Abnormal foot morphology, Ankle flexion contracture, Pes cavus, Abnormality of the hand, Tremor OMIM:616668
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Patellar dislocation, Short humerus, Sho... ORPHA:93328
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Wormian bones, Abnormality of epiphysis morphology, Tapered finger,... ORPHA:970
Pycnodysostosis
Brachydactyly, Wormian bones, Abnormality of pelvic girdle bone morphology, Osteolytic defects of... OMIM:265800
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia ORPHA:436182
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus, Tremor OMIM:608105
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorin... ORPHA:1307
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Ankylosing Vertebral Hyperostosis With Tylosis
Palmoplantar keratoderma, Abnormal pelvis bone morphology, Osteoarthritis ORPHA:2206
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Congenital Disorder Of Glycosylation, Type Ie
EEG abnormality, Short palm, Upper limb undergrowth, Ankle flexion contracture, Ataxia, Knee flex... OMIM:608799
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Myoclonus, Hypertonia OMIM:261630
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Distally placed thumb, Hypoplasia of the radius, Short thumb OMIM:179270
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Short 5th metacarpal, Rhizomelia, Short 4th metacarpal, Pes planus, Broad thumb, F... OMIM:619638
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Arthrogryposis, Distal, Type 2A
Elbow flexion contracture, Rocker bottom foot, Hearing impairment, Joint dislocation, Knee flexio... OMIM:193700
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Hammertoe, Radioulnar dislocation, Equinus calcaneus, S... ORPHA:536532
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Rocker bottom foot, Ulnar bowing, Arachnod... OMIM:207410
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Mixed hea... OMIM:123000
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hy... OMIM:223800
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Spastic diplegia, Spastic parapar... ORPHA:206443
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease, Craniosynostosis OMIM:218550
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Pes planus, Short phal... OMIM:157900
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Absent Achilles reflex, Tremor OMIM:182920
Smith-Magenis Syndrome
Brachydactyly, Toe syndactyly, EEG abnormality, Hypercholesterolemia, Motor stereotypy, Clinodact... ORPHA:819
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Low-set ears, Microtia, Micrognathia ORPHA:357175
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Low-set ears, Fibular hypoplasia, Short ribs, Preaxial p... OMIM:617925
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Clinodactyly of the 5th finger, Ataxia, Pes cavus, Bilateral sensorine... OMIM:619422
Mandibuloacral Dysplasia
Hypercholesterolemia, Osteolytic defects of the distal phalanges of the hand, Micrognathia, Hyper... ORPHA:2457
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Enlargement of the wrists, Metaphyseal chondrodysplasia, Spastic paraplegia, Large knee, Babinski... ORPHA:83629
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Ab... ORPHA:3130
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Low-frequency sensorineural hearing impairment, Hyp... OMIM:613101
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Hearing im... ORPHA:3258
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormality of pelvic girdle bone morphology, Dystonia, Elevated circulating creatine kinase conc... OMIM:167320
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Radioulnar synostosis, Abnormal... ORPHA:2319
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Tremor, Ataxia, D... ORPHA:1368
Dravet Syndrome
Incoordination, EEG with focal epileptiform discharges, Pes valgus, Action tremor, Interictal epi... ORPHA:33069
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Cupped ear, Conductive hearing impairment, Hypoplasia ... ORPHA:246
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Abnormality of ulnar metaphysis, Small hand, Narrow palm ORPHA:177910
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Rhyns Syndrome
Brachydactyly, Conductive hearing impairment, Radial bowing, Short femoral neck OMIM:602152
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Action tremor, Clonus, Tremor, Dysmetria, Abnormal autonomic nervous sys... ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Trisomy X
Clinodactyly of the 5th finger, Hip dysplasia, Tremor ORPHA:3375
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Hemiatrophy, Tremor ORPHA:306669
Osteogenesis Imperfecta, Type V
Wormian bones, Abnormality of pelvic girdle bone morphology, Pes planus, Anterior radial head dis... OMIM:610967
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ... ORPHA:363710
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Low-set ears, Microtia, Micrognathia OMIM:615162
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Hand muscle atrophy, Hand tremor, Proximal lower limb am... ORPHA:101085
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Pes planus, Deviation of the 5th finger, Genu valgum, Brachydactyly, Short ... OMIM:143095
Tibial Hemimelia
Absent tibia OMIM:275220
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Rhizomelia, Micrognathia, Short humerus, Stippled c... OMIM:222765
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Pes cavus, Decreased motor nerve conduction velocity, Tongue f... OMIM:601596
Sc phocomelia syndrome
Clinodactyly, Wormian bones, Phocomelia, Absent radius, Short thumb, Micrognathia, Knee flexion c... OMIM:269000
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment, Tremor ORPHA:79234
Radial-Renal Syndrome
Absent thumb, External ear malformation, Absent radius OMIM:179280
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Micrognathia, Syndactyly OMIM:228940
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Dysmetria, Frequent falls, Hand tremor, Sensorineura... OMIM:302800
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Decreased sensory nerve conduction velocity, Long fingers, De... OMIM:218000
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Cupped ear, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly ... ORPHA:1352
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Spasticity, Talipes equinovarus, Tremor OMIM:616719
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Hypoc... OMIM:277440
Behr Syndrome
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Optic atro... OMIM:210000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Hypoc... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Enlar... OMIM:241530
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Ataxia, Myoclonus, Tremor OMIM:614018
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Radial head subluxation, Pes planus, 11 pairs of ribs, Micrognathia, Hallux va... OMIM:271640
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Fractures of the long bones, Tetraparesis, Abnormality of pelvic girdle... OMIM:602080
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormality of the ulna, Abnormal metacarpal morphology ORPHA:2233
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Poor coordination, Ataxia, Recurrent hand flapping, Macrotia, Postaxial polydact... ORPHA:544254
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Proximal lower limb amyotro... ORPHA:98863
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Tetraparesis, Sensorineural hearing impairment, Ataxia, Abnormal auditory ev... OMIM:619260
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Proximal lower limb amyotro... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Proximal lower limb amyotro... ORPHA:98853
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Pes cavus, Hearing impairment, Tremor ORPHA:101078
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Low-set ears, Fibular hypoplasia, Rhizomelia, Clinodactyly of the... OMIM:228520
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Enlar... OMIM:300554
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Spasticity, Hypertriglyceridemia, Finger clin... ORPHA:261476
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Ataxia, Hyperphenylalaninemia,... OMIM:261640
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short thumb, Vertebral fusion, ... ORPHA:959
4Q21 Microdeletion Syndrome
Toe syndactyly, Short palm, Low-set ears, Motor stereotypy, Hearing impairment, Micromelia, Small... ORPHA:238750
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Dystonia 11, Myoclonic