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Gene: Col9a2 MGI:88466

Gene Summary

Name:

collagen, type IX, alpha 2

Synonyms:

Col9a-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tibia morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.64×10^-13
short tibia	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.54×10^-10
decreased locomotor activity	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.54×10^-06
increased circulating triglyceride level	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.33×10^-06
abnormal ulna morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-14
abnormal radius morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.48×10^-08
abnormal femur morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.53×10^-14
tremors	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.21×10^-06
abnormal humerus morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.69×10^-14
abnormal auditory brainstem response	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.63×10^-07
abnormal pelvic girdle bone morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.99×10^-08
decreased prepulse inhibition	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.44×10^-09
increased circulating alkaline phosphatase level	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.83×10^-05
abnormal joint morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.69×10^-14
abnormal ear morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.23×10^-13

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	50% (1 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	50% (1 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

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Immunophenotyping

Panel A FCS file(s)

7 Images

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Auditory Brain Stem Response

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

4 Images

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Immunophenotyping

Panel B FCS file(s)

7 Images

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Human diseases caused by Col9a2 mutations

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

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

Human diseases associated with Col9a2 (4 diseases)
Human diseases predicted to be associated with Col9a2 (810 diseases)

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

Disease	Matching phenotypes	Source
Epiphyseal Dysplasia, Multiple, 2	Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Flatt...	OMIM:600204
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel...	ORPHA:166002
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Genu valgum, Abnormal epiph...	ORPHA:250984
Stickler Syndrome, Type V	Sensorineural hearing impairment	OMIM:614284

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

Disease	Matching phenotypes	Source
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Spinal Muscular Atrophy, Jokela Type	Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ...	OMIM:615048
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Spastic paraplegia, Abnormality of the upper limb, Abnormal hip bone morpholog...	ORPHA:1891
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Abnormality of the hand, Trem...	OMIM:160120
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes, Mildly ele...	OMIM:614369
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Epiphyseal Dysplasia, Multiple, 2	Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Flatt...	OMIM:600204
Optic Atrophy 2	Tremor, Babinski sign, Optic atrophy, Absent Achilles reflex, Dysdiadochokinesis	OMIM:311050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Glycosylphosphatidylinositol Biosynthesis Defect 17	Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe	OMIM:618010
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel...	ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa v...	OMIM:602111
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Equinovarus deformity, Hand muscle weakness, Tremor, A...	ORPHA:101077
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Metaphyseal Chondrodysplasia, Schmid Type	Waddling gait, Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphysea...	OMIM:156500
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital f...	ORPHA:93308
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic...	OMIM:201170
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Lower limb asymmetry, Osteoarthritis, Abnormal fibula morphol...	ORPHA:85198
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g...	ORPHA:1802
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hammertoe, Stepp...	OMIM:609260
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Limb dystonia, Bilateral coxa valga, Hearing impairment	OMIM:620270
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Abnormality of the hand, Coxa...	ORPHA:356961
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Sensorineural hearing i...	OMIM:610717
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e...	OMIM:601382
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme...	OMIM:618387
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Waddling gait, Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio aceta...	ORPHA:99642
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem...	ORPHA:276435
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon...	ORPHA:1146
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,...	OMIM:118300
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Tremor, Inability to walk, Small hand, Macrotia	OMIM:616269
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Small hand, Truncal ataxia, D...	OMIM:610185
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, Clinodactyl...	OMIM:268305
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente...	OMIM:177170
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Abnormal m...	ORPHA:1307
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys...	OMIM:608728
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Ta...	OMIM:601455
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Hearing impairment, Limited elbow extension, Short...	ORPHA:1856
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus	OMIM:617018
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morphology, Sensorineural hear...	OMIM:607143
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Multiple Epiphyseal Dysplasia, Beighton Type	Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar...	ORPHA:166011
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty...	OMIM:613608
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnorma...	ORPHA:2370
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn...	OMIM:601559
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis, Pes cavus	OMIM:158580
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Generalized Epilepsy With Febrile Seizures-Plus	Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Limited k...	ORPHA:36387
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h...	ORPHA:3320
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i...	OMIM:605432
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing...	ORPHA:2928
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Hearing impairment, Gait ataxia	ORPHA:217012
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S...	ORPHA:52368
Microtriplication 11Q24.1	Speech apraxia, Attached earlobe, Joint dislocation, Posteriorly rotated ears, Metatarsus adductu...	ORPHA:289522
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hearing impairment, Micrognathia, Recurrent patellar dislocation, Capitate-hama...	OMIM:614078
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand	ORPHA:177910
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ank...	ORPHA:521406
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M...	ORPHA:1508
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Gout	OMIM:610947
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul...	ORPHA:599373
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor...	ORPHA:1988
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm...	ORPHA:320401
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, Bradykinesi...	OMIM:617435
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Upper limb postural tremor, Gait ataxia, Hammertoe, Pe...	OMIM:180800
Auriculoosteodysplasia	Attached earlobe, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Aplasia/H...	ORPHA:114
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i...	OMIM:165300
Temple Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Micrognathia, Small hand, Short foot, Hypercholes...	OMIM:616222
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Macrotia, Hearing impairment, Protruding ear	OMIM:302905
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Broad-based gait, Coxa vara, Irregular ...	OMIM:616716
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Spondylometaphyseal Dysplasia, Kozlowski Type	Waddling gait, Enlarged joints, Irregular, rachitic-like metaphyses, Abnormal foot morphology, Hy...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, R...	OMIM:300106
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Smith-Magenis Syndrome	Pes planus, Hypertriglyceridemia, Hearing impairment, Broad palm, EEG abnormality, Short palm, Hy...	OMIM:182290
Pentasomy X	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Small hand, Short foot,...	ORPHA:11
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing...	OMIM:194350
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Distal upper limb amyotrophy, Gait disturbance, Abnormal nerve conduction velocit...	ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Micrognathia, Tremor, Babinski sign, Small hand, ...	OMIM:300055
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax...	ORPHA:363400
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Hand muscle weakness, Hand tremor, Gait...	ORPHA:101085
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Decreased motor nerve conduction velocity, Decreased sensory ne...	ORPHA:206594
Progressive Supranuclear Palsy-Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi...	ORPHA:240103
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Abnormal pelv...	OMIM:167320
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Inability to walk, Small hand, Limb myoclonus, Gait atax...	ORPHA:3095
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes...	ORPHA:90117
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Spinocerebellar Ataxia Type 37	Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait dist...	ORPHA:363710
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ...	ORPHA:206443
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Pro...	OMIM:277460
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow di...	ORPHA:1425
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Tremor, Overfolded helix, Gait ataxia, Large fleshy ears, Hyp...	OMIM:619092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Ravine Syndrome	Spasticity, Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Hemiatrophy	ORPHA:306669
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Simple ear...	OMIM:602471
X-Linked Intellectual Disability, Hedera Type	Pes planus, Extrapyramidal muscular rigidity, Inability to walk, Calcaneovalgus deformity, Unstea...	ORPHA:93952
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo...	ORPHA:139485
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Ost...	OMIM:307800
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala...	ORPHA:2741
Camurati-Engelmann Disease	Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Ataxia, Abno...	ORPHA:1328
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d...	OMIM:108721
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges	OMIM:616187
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Abnormal pinna morphology, Micrognathia, Split hand, Poor ...	OMIM:157900
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear...	OMIM:311300
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Rajab Interstitial Lung Disease With Brain Calcifications 2	Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Incoordination, Hand muscle weakness, Tremor, Parapare...	OMIM:302800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Frequent falls, Optic disc pallor, Broad finger	OMIM:617523
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga	OMIM:109120
Cystathioninuria	Cystathioninemia, External ear malformation, Tremor, Talipes equinovarus	ORPHA:212
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance, Pes cavus, Hearing impairment	ORPHA:101078
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Martsolf Syndrome 1	Pes planus, Short metacarpal, Posteriorly rotated ears, Clonus, Micrognathia, Metatarsus adductus...	OMIM:212720
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif...	OMIM:156550
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi...	ORPHA:83629
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Paraparesis, F...	OMIM:602080
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Hand polydactyly, Abnormal metaca...	ORPHA:2167
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Ant...	ORPHA:249
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Micromelia, Micrognathia...	ORPHA:93329
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia...	ORPHA:1368
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture...	OMIM:608799
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal e...	OMIM:144750
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Arthrogryposis, Distal, Type 2A	Joint dislocation, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Abnormal au...	OMIM:193700
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, E...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, E...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, E...	ORPHA:98853
Smith-Magenis Syndrome	Pes planus, Toe syndactyly, Hypertriglyceridemia, Micrognathia, Conductive hearing impairment, EE...	ORPHA:819
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,...	OMIM:619260
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, E...	ORPHA:98855
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Posteriorly ...	ORPHA:1427
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Micrognathia	ORPHA:436182
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology	ORPHA:1506
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormal epiphysis morphology, Abno...	ORPHA:970
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or...	ORPHA:454887
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5...	OMIM:619638
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Posteriorly rotated ears, Capitate-h...	OMIM:206920
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy, Metaphyseal widening, Flared metaphysis, Abnormal pelvic ...	OMIM:123000
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Torticollis, Ataxia, Parkinsonism, Generalized dyston...	ORPHA:98808
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, F...	ORPHA:570
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal pelvic girdle bone morphology...	ORPHA:2097
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Bilateral sensorineural hearing impairment, Dysto...	OMIM:619422
Monomelic Amyotrophy	Tremor, Distal upper limb amyotrophy, Abnormality of the upper limb, Fasciculations, Abnormality ...	ORPHA:65684
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip dislocation, ...	OMIM:618395
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity,...	ORPHA:99014
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Abnormal circulating calcium co...	OMIM:241530
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:277440
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Pes planus, Joint dislocation, Hypertriglyceridemia, Arachnodactyly, Sandal gap, P...	ORPHA:536532
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f...	OMIM:218000
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Micrognathia, Osteolytic defec...	ORPHA:2457
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit...	ORPHA:2557
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia, Reduced haptoglobin level	OMIM:612126
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic...	OMIM:617925
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus,...	OMIM:618019
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Hyporeflexi...	ORPHA:98763
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Tongue fasciculations, ...	OMIM:159950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor...	ORPHA:2590
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Conductive hearing impairment, Short tibia, Adacty...	ORPHA:2751
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph...	OMIM:605282
Trisomy X	Clinodactyly of the 5th finger, Hip dysplasia, Tremor	ORPHA:3375
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Hand tremor, Tetraplegia, Gait disturbance, Fasciculations, Mildly elevated creat...	OMIM:604484
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Omodysplasia 2	Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Hypoplastic distal hum...	OMIM:164745
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Low-frequency sensorineural hearing impairment, Hyp...	OMIM:613101
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fi...	ORPHA:79263
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab...	ORPHA:3130
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus	OMIM:607458
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ...	ORPHA:391411
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Abnormal pyrami...	ORPHA:909
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Spastic Paraplegia 9A, Autosomal Dominant	Lower limb spasticity, Resting tremor, Hoffmann sign, Spastic gait, Babinski sign, Spastic parapl...	OMIM:601162
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Steppage ga...	OMIM:616505
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ...	OMIM:208920
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Postaxial polydactyly, Tremor, Anteverted ears, Poor coordination, Gait disturbance, Macr...	ORPHA:544254
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive spastic par...	ORPHA:206448
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment	ORPHA:79234
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat...	OMIM:614307
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Acromelic Frontonasal Dysostosis	Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp...	OMIM:603671
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Ulnar bowing, Humeroradial synosto...	OMIM:207410
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ...	OMIM:615558
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Finger clinodactyly, Ca...	ORPHA:261476
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Tibial Hemimelia	Absent tibia	OMIM:275220
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox...	OMIM:618150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Radioulnar synostosis, Short middle phalanx of the 4th finger, ...	OMIM:616738
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abnormality of circulatin...	ORPHA:3124
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Elevated circulating phytanic ac...	OMIM:614867
Intellectual Developmental Disorder, X-Linked 12	Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait disturbance, Spasticity, H...	OMIM:300957
Osteogenesis Imperfecta, Type V	Pes planus, Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Worm...	OMIM:610967
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia...	ORPHA:96334
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Areflexia of upper limbs, Tremor, Intrinsic hand muscle atrophy, Impaired tandem gait, Polyminimy...	OMIM:619574
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia	ORPHA:280356
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Pes cavus, Spastic gait	OMIM:600363
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Tremor, Calf muscle h...	ORPHA:209335
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig...	OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Tremor, Optic atrophy, Bradykinesia, Abnormal autonomic nervous...	ORPHA:329284
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast...	OMIM:617810
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Seckel Syndrome 10	Microretrognathia, Hypertriglyceridemia, Elevated hemoglobin A1c, Metaphyseal widening, Cone-shap...	OMIM:617253
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Talipes equinovalgus, Multifocal epileptiform discharges, Tibia...	ORPHA:453510
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, P...	OMIM:213200
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal...	ORPHA:765
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300554
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Hip dislocation, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Optic atrophy, ...	OMIM:614381
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls	OMIM:616719
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle...	OMIM:618853
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Hearing impairment, Elbow ...	ORPHA:3258
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Osteopetrosis, Autosomal Dominant 2	Facial palsy, Fractures of the long bones, Abnormal pelvic girdle bone morphology, Hip osteoarthr...	OMIM:166600
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Hypoplastic ilia, Abnormal...	ORPHA:1860
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Spasti...	ORPHA:2804
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Optic nerve hypoplasi...	OMIM:222765
Trisomy 10P	Thumb contracture, Wide cranial sutures, Poor motor coordination, Posteriorly rotated ears, Abnor...	ORPHA:171929
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin...	OMIM:619135
Osteogenesis Imperfecta, Type Xiv	Sensorineural hearing impairment, Femoral bowing	OMIM:615066
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Syndactyly, EEG with focal spike waves, Ataxia, Tremor, Unstea...	ORPHA:1942
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Single transverse palmar crease, Tremor, Hip dysplasia, Hyperkinetic movements, Upper limb spasti...	ORPHA:457240
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Poor coordination, Cone-shaped epiphyses of the phalanges of...	ORPHA:420794
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Letha...	OMIM:233910
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar...	OMIM:616723
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype...	OMIM:261640
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Leg muscle stiffness, Clums...	ORPHA:137898
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Coarse metaphyseal trabecularization, Genu valgum, Gait disturbance, Hypocalce...	ORPHA:93160
Fanconi-Bickel Syndrome	Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe...	OMIM:210600
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Decrea...	ORPHA:329478
Amish Nemaline Myopathy	Tremor, Hip contracture, Shoulder flexion contracture	ORPHA:98902
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Phaver Syndrome	Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Pterygium, Short thumb, ...	ORPHA:2876
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Tremor, Small hand, Short foot, Low-set ears, Short palm, Hearing imp...	ORPHA:238750
Reni Syndrome	Sensorineural hearing impairment, Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Optic atrophy, Dysmetr...	OMIM:210000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Large hands, Hypercholesterolemia, Long foot, Increased C-peptide level	ORPHA:528
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes planus, Sandal gap, Abnormal pinna morphology, Tremor, Small hand, Gait ataxia, Short foot, P...	OMIM:300354
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si...	OMIM:606693
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Pes planus, Bowed humerus, Tarsal syno...	OMIM:272460
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm...	OMIM:619473
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu...	OMIM:241600
48,Xxyy Syndrome	Pes planus, Ataxia, Talipes, Elbow dislocation, Tremor, Abnormal shoulder morphology, Radioulnar ...	ORPHA:10
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Sensorineural hearing impairment, Abnormal pelvic g...	ORPHA:1458
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment, Abnormal pelvic girdle bone morphology, Thickened cortex of long b...	OMIM:607634
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Tr...	ORPHA:85293
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas...	ORPHA:53351
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, E...	ORPHA:401973
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Upper limb undergrowth, Mult...	ORPHA:369837
Chronic Bilirubin Encephalopathy	Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia...	ORPHA:529808
Acute Bilirubin Encephalopathy	Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia...	ORPHA:529799
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Aplasia/Hypoplas...	ORPHA:2911
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Conductive hearing impairment, Hypoplasia of the ulna, Finger syndactyly, Br...	ORPHA:959
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-like metaphyses, Subperioste...	ORPHA:289157
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:614298
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Bruck Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Talipes equinovarus, Wormian...	OMIM:609220
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears	ORPHA:477673
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Shoulder girdle muscle weakness, ...	ORPHA:98907
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Micrognathia, Tremor, Hypsarrhythmia, Hypertonia, Clinodactyly o...	OMIM:608093
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Optic atrophy, Genu valgum, EEG a...	ORPHA:1340
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Structural foot deformity, Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Art...	ORPHA:397744
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Tibial bowing, Abnormal pelvic girdle bone ...	OMIM:166210
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Hearing impairment, Wide distal femoral metaphysis, Femoral bo...	OMIM:614856
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetrapl...	OMIM:603553
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ears, Micrognat...	OMIM:200980
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ...	ORPHA:282166
Proteasome-Associated Autoinflammatory Syndrome 3	Arthritis, Finger swelling, Hypertriglyceridemia	OMIM:617591
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Abnorm...	ORPHA:352649
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Hip contracture, Shoulder flexion contracture	OMIM:605355
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Conduc...	OMIM:304120
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Rothmund-Thomson Syndrome Type 2	Calcinosis, Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia invol...	ORPHA:221016
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop...	OMIM:276820
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:300009
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Hypertriglyceridemia, Micrognathia	OMIM:615381
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Tibial bowing, Slender long bone, Wormian bones, Hearing impai...	OMIM:259420
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sy...	OMIM:607323
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction...	ORPHA:206436
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Hydroxyprolinemia, Sensorineural hearing impairment, Lat...	OMIM:239000
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip...	OMIM:309350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Ivic Syndrome	Aplastic clavicle, Hearing impairment, Preaxial hand polydactyly, Short thumb, Hypoplasia of the ...	ORPHA:2307
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Cupped ear,...	ORPHA:1352
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, External ear malformation, Conductiv...	ORPHA:254346
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Inabi...	OMIM:312080
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Talipes, Camptodactyly of finger, Craniosynost...	ORPHA:83
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Delayed cranial suture closure, Decrea...	OMIM:619127
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Tongue tremor, Hypertonia, Proximal muscle weakness in upper limbs,...	ORPHA:466768
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Protruding ear, Hypoplastic iliac wing, Small earlobe, Vertebral hypopl...	ORPHA:93315
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin...	OMIM:128100
Rothmund-Thomson Syndrome Type 1	Calcinosis, Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasia, Fi...	ORPHA:221008
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Focal EEG discharges with ...	ORPHA:3077
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Foot joint contracture, Ataxia, Tremo...	ORPHA:90321
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Hearing impairment, Tapered finger, ...	ORPHA:1452
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac...	OMIM:271640
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Pa...	ORPHA:476126
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Micrognathia, Proximal upper limb ...	ORPHA:280365
Cockayne Syndrome A	Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, ...	OMIM:216400
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Camptodactyly of finger, Dystonia, Tremor, Unsteady gait, Optic atr...	ORPHA:354
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G...	OMIM:617988
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Abnormal pinna morphology, Tarsal synostosis, Short hallux, Camptodacty...	ORPHA:90652
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Hypertonia, Small earlobe, Intention tremor, Long toe, Genu varum, Large hands, Low...	OMIM:264090
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Low-set, poste...	ORPHA:175
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clino...	OMIM:224690
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:2760
H Syndrome	Hallux valgus, Pes planus, Hypertriglyceridemia, Camptodactyly, Hearing impairment	ORPHA:168569
Griscelli Syndrome Type 1	Hyperlipidemia, Hypertonia, Ataxia	ORPHA:79476
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln...	ORPHA:84
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Inability to wa...	OMIM:617675
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elev...	OMIM:302960
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst...	OMIM:300894
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Rickets of the lower limbs, Craniosynostosis, Lower limb asymmetry, Abnor...	ORPHA:289176
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Tremor, Abnormal pyramidal sign, Optic a...	OMIM:612199
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment, Femoral bowing	OMIM:126550
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli...	OMIM:618056
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration, El...	OMIM:606002
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Hypertonia, Conductive hearing impairment,...	ORPHA:199
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:435660
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm...	OMIM:263750
Alstrom Syndrome	Pes planus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the han...	OMIM:203800
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride...	ORPHA:540
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp...	ORPHA:240071
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Ataxia, Parkinsonism, Tremor, Increased circulating ferritin ...	ORPHA:167
Charcot-Marie-Tooth Disease Type 4B2	Pes planus, Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potent...	ORPHA:99956
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Japanese Encephalitis	Decreased motor nerve conduction velocity, Genu recurvatum, Tremor, Opisthotonus, Choreoathetosis...	ORPHA:79139
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve c...	OMIM:133540
Osteogenesis Imperfecta, Type I	Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian bones, Hearing i...	OMIM:166200
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation	OMIM:616507
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Sh...	ORPHA:2909
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Tapered finger, Tremor, Brac...	OMIM:619680
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Short clavi...	OMIM:608612
3Mc Syndrome	Abnormal pinna morphology, Hearing impairment, Craniosynostosis, Hip dislocation, Large fleshy ea...	ORPHA:293843
48,Xxxy Syndrome	Pes planus, Down-sloping shoulders, Coxa valga, Elbow dislocation, Tremor, Hip dislocation, Radio...	ORPHA:96263
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Femoral bowing, Conductive hearing impairment, Abnormality ...	ORPHA:95699
Wiedemann-Rautenstrauch Syndrome	Tremor, Hypoplastic vertebral bodies, Hypertonia, Long toe, Ataxia, 2-3 toe syndactyly, Low-set e...	ORPHA:3455
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, S...	OMIM:300998
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Aganglionic megacolon, Hypoplasia of the odontoid process, Metaphyseal wid...	OMIM:250250
Gabriele-De Vries Syndrome	Hallux valgus, Waddling gait, Sandal gap, Posteriorly rotated ears, Micrognathia, Tremor, Long fi...	OMIM:617557
Wolfram Syndrome 1	Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Limited mobility of proximal int...	OMIM:222300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Hearing impairment, Hyperlipidemia, Osteolytic defects of th...	ORPHA:90153
Joubert Syndrome	Ataxia, Aganglionic megacolon, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Low-...	ORPHA:475
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Dislocated rad...	OMIM:130070
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Down-sloping shoulders, Coxa valga, Micrognathia, Hyperlipidemia, Elbow flexion contr...	OMIM:248370
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Posteriorly rotated ears, Short long bone, Low-set ...	OMIM:619479
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, EEG with focal spike waves, Sandal gap, Ataxia, Posteriorly rotated ears, ...	OMIM:619229
Osteogenesis Imperfecta, Type Xviii	Wormian bones, Bowing of the long bones, Micrognathia, Femoral bowing	OMIM:617952
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia, O...	ORPHA:79330
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D...	OMIM:236680
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Ataxia, Micrognathia, Tremo...	ORPHA:2754
Familial Multiple Lipomatosis	Hyperlipidemia, Bowing of the long bones	ORPHA:199276
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Ataxia, Tremor, Talipes cavus equinovarus, Prominent protruding coccyx, Spasti...	OMIM:300966
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Conductive hearing impairment, Hypopla...	OMIM:218600
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:66628
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Gout, Increased LDL cholesterol co...	ORPHA:412
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Blepharospasm, Fal...	ORPHA:683
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Femoral bowing, Anotia, Microtia, Flared lower limb metaphysis, Acetabular dysplasi...	OMIM:616462
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:179494
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hand muscle weakness, Sensorineural hearing impairment, Shoulder girdle mus...	ORPHA:98908
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp...	ORPHA:90154
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hand polydactyly, Gait ...	ORPHA:220497
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Cidec-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia	ORPHA:435651
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon...	OMIM:610915
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Tetanus	Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, A...	ORPHA:3299
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hy...	OMIM:618183
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypoplastic scapula...	OMIM:256040
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Ataxia, Aganglionic megacolon, Tremor, Hand polydactyly, Gait ...	ORPHA:220493
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Aredyld Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Abnormal tragus morpho...	ORPHA:1133
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Li...	OMIM:105210
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Lethal Congenital Contracture Syndrome 10	Torticollis, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Low-set ears, Ov...	OMIM:617022
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Pes cavus, Elevated circulating creatin...	OMIM:615980
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p...	OMIM:168600
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Occipital Horn Syndrome	Short humerus, Pes planus, Decreased circulating ceruloplasmin concentration, Decreased circulati...	OMIM:304150
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger, Hypertonia, Spasticity,...	OMIM:618367
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Low-set ears, Hypercholesterolemia, Macrotia, Short...	OMIM:118450
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Macrotia, Spastic gait	ORPHA:3079
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb	OMIM:314390
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Sensorineural hearing impairment, Unsteady ga...	ORPHA:17
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,...	OMIM:616145
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Optic nerve hypoplasia, Micrognathia, Tremor, Simple ear, E...	OMIM:615574
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Early Infantile Epileptic Encephalopathy	Dystonia, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, EEG abnormality, U...	ORPHA:1934
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodac...	ORPHA:2753
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Posteriorly rotated ears, Micrognathia, Tremor, Cupped ear, Overfolded helix, Choreoathetosis, De...	OMIM:614080
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Abnormal femoral head morphology, Hyperlipidemia, Hemiparesis, Hy...	ORPHA:1830
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, Humeroradial synostosis...	ORPHA:3404
Harrod Syndrome	Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, Arachnodactyly, Protruding ear	ORPHA:2115
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Single transverse palmar crease, Tremor, Unsteady gait...	OMIM:614947
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, EEG with spike-wave complexes, Tr...	ORPHA:2203
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ...	OMIM:613848
Sclerosteosis 1	Syndactyly, Papilledema, Facial palsy, 2-3 finger syndactyly, Optic atrophy, Deviation of finger,...	OMIM:269500
Kinsship Syndrome	Pes planus, Single transverse palmar crease, Spastic tetraparesis, Coxa valga, Micrognathia, Hip ...	OMIM:619297
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis, Palmoplantar keratoderma	OMIM:610644
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,...	OMIM:269150
Atypical Werner Syndrome	Pes planus, Hypertriglyceridemia, Rocker bottom foot, Micrognathia, Osteolytic defects of the pha...	ORPHA:79474
Caudal Regression Syndrome	Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic verte...	ORPHA:3027
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Hypocalcemia, Hypoplasia of the ...	OMIM:214800
Gaisböck Syndrome	Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H...	ORPHA:90041
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Posteriorly rotated ears, Micrognathia,...	OMIM:300373
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Craniosynostosis, Tremor, Abnormal epiphysis morphology, Hypocalcemia, ...	ORPHA:667
Glycerol Kinase Deficiency	Low-set ears, Lethargy, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Femoral bowing, Conductive hearing impairment, Simple ear, ...	OMIM:201750
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Clonus, Babinski sign, Dysmetria, Gait ataxia, Dys...	OMIM:606721
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Orofaciodigital Syndrome Type 1	Finger syndactyly, Ataxia, Tarsal synostosis, Hearing impairment, Micrognathia, Tremor, Preaxial ...	ORPHA:2750
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Long foot, Large hands, Macrotia	OMIM:269700
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Hypertriglyceridemia, Bilateral sensorineural hearing impairment, Profound hea...	OMIM:619418
Aspartylglucosaminuria	Pes planus, Microtia, Abnormal morphology of ulna, Arthritis	ORPHA:93
Lipodystrophy, Congenital Generalized, Type 1	Macrotia, Large hands, Hypertriglyceridemia, Long foot	OMIM:608594
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Hypertonia, Spasticity	OMIM:616539
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Brachydactyly, Rhizomelic arm shortening, Hearing impairment	ORPHA:508542
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia	ORPHA:2089
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Poor motor coordination, Dystoni...	OMIM:277900
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Abnormal foot morphology, Rigidity, Babin...	OMIM:234200
Aromatase Deficiency	Hyperlipidemia, Delayed epiphyseal ossification, Genu valgum	ORPHA:91
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Macrotia, Sensorineural hearing impairment, Tibia...	ORPHA:500095
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone morphology, Hand pol...	ORPHA:289
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Genu valgum, Abnormal epiph...	ORPHA:250984
Cerebrocostomandibular Syndrome	11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration	ORPHA:444490
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia, Increased ...	ORPHA:77293
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Wormian bones, Hearing impairment, M...	ORPHA:444077
Tangier Disease	Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Congenital Analbuminemia	Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp...	ORPHA:86816
Griscelli Syndrome Type 2	Hyperlipidemia, Hypertonia	ORPHA:79477
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S...	OMIM:268300
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Fabry Disease	Hyperlipidemia, Sensorineural hearing impairment, Optic atrophy, Abnormal femur morphology, Arthr...	ORPHA:324
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Joint hemorrhage, Hyperuricemia	ORPHA:35909
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Limited elbow movemen...	OMIM:261540
Woodhouse-Sakati Syndrome	Hyperlipidemia, Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of...	OMIM:241080
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemiparesis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:235400
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Hyperlipidemia, Sensorineural hearing impairm...	ORPHA:565612
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia, Abnormal autonomic ...	ORPHA:293987
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Gout	OMIM:232200
Alström Syndrome	Pes planus, Optic disc pallor, Hypertriglyceridemia, Ataxia, Incoordination, Short toe, Hyperlipi...	ORPHA:64
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia, Gout	OMIM:232220
Woodhouse-Sakati Syndrome	Hyperlipidemia, Protruding ear, Choreoathetosis, Bilateral sensorineural hearing impairment, Dyst...	ORPHA:3464
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia, Pedal edema	ORPHA:567546
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia, Gout	OMIM:232240
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Stickler Syndrome, Type V	Sensorineural hearing impairment	OMIM:614284

Histopathology

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

There is no histopathology data for Col9a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col9a2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.	American journal of medical genetics. Part A (June 2019)	Col9a2^{tm1a(EUCOMM)Wtsi}	31161720
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Col9a2^{tm1b(EUCOMM)Wtsi}	PMC5638796

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

MGI Allele	Allele Type	Produced
Col9a2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Col9a2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Col9a2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Col9a2^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Col9a2 MGI:88466

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

X-ray

X-ray

Adult LacZ

Immunophenotyping

Auditory Brain Stem Response

Immunophenotyping

Human diseases caused by Col9a2 mutations

Histopathology

IMPC related publications

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