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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 humerus morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.69×10^-14
abnormal auditory brainstem response	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.88×10^-07
tremors	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.21×10^-06
decreased prepulse inhibition	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.44×10^-09
abnormal pelvic girdle bone morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.99×10^-08
increased circulating alkaline phosphatase level	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.83×10^-05
abnormal ear morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.23×10^-13
increased circulating triglyceride level	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.33×10^-06
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	6.82×10^-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
abnormal joint morphology	Col9a2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.69×10^-14

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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
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)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	50% (1 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	50% (1 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)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 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 Dorso Ventral

12 Images

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Adult LacZ

LacZ Images Wholemount

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

7 Images

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Immunophenotyping

Panel B 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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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 (820 diseases)

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

Disease	Matching phenotypes	Source
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Irregular epiphyses, Small epiphyses, Ost...	OMIM:600204
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Micrognathia, Sensorineural hea...	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	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Elbow dislocation, Radial bow...	OMIM:201250
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Leri-Weill Dyschondrosteosis	Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia...	OMIM:127300
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Pes cavus, Tremor, Elevated circulating creatine kinase conce...	OMIM:615048
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Spastic paraplegia, Spasticity, Finger syndactyly, Abnormal hip bone morphology, Bilateral single...	ORPHA:1891
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
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 pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Fibular Hemimelia	Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin...	ORPHA:93323
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod...	ORPHA:3104
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno...	ORPHA:1837
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Irregular epiphyses, Small epiphyses, Ost...	OMIM:600204
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Carpal bone aplasia, Fibular ap...	OMIM:200500
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac...	ORPHA:3266
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, ...	ORPHA:2633
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Absent patellar reflexes, Hearing impairment, Abnormal foot morphology, Tremor, Decreased patella...	OMIM:614369
Optic Atrophy 2	Optic atrophy, Absent Achilles reflex, Tremor, Babinski sign, Dysdiadochokinesis	OMIM:311050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga	OMIM:613618
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi...	OMIM:615924
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Multiple Epiphyseal Dysplasia Type 4	Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Prematu...	ORPHA:93307
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Bowing of the long bones, Metaphyseal chondrodysplasia, Gait distu...	ORPHA:2501
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Decreased motor nerve conduction velocity, Equinovarus deformity, Abnormal f...	ORPHA:101077
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin...	ORPHA:85188
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Avascular necrosis of the capital femoral...	ORPHA:93308
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognat...	OMIM:201170
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Dysspondyloenchondromatosis	Joint dislocation, Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Osteoarthriti...	ORPHA:85198
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Ghosal Hematodiaphyseal Dysplasia	Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow...	ORPHA:1802
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Pes cav...	OMIM:609260
Tetrasomy X	Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia	ORPHA:9
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Increased circulating thyrogl...	ORPHA:356961
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hyp...	OMIM:119100
Acrodysostosis	Hearing impairment, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology...	ORPHA:950
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Pes cavus, Gait ataxia, Cogwheel rig...	OMIM:128230
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci...	OMIM:601382
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Bilateral coxa valga, Hearing impairment, Limb dystonia, Tremor, Ataxia	OMIM:620270
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Pes cavus, Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, St...	OMIM:618387
Spondylometaphyseal Dysplasia, Type A4	Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic...	OMIM:609052
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Arthralgia of the hip, Wide dista...	ORPHA:99642
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine...	OMIM:616516
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Talipes calcaneovalgus, Thenar muscle weakness, Pes ca...	OMIM:118300
Intellectual Developmental Disorder, Autosomal Recessive 48	Small hand, Inability to walk, Tremor, Macrotia, Waddling gait	OMIM:616269
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Pes...	OMIM:601455
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus, Scissor gait...	OMIM:260300
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati...	ORPHA:309169
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly r...	ORPHA:2631
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A...	OMIM:614561
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Proximal muscle weakness in upper limbs, Fasciculations, Inability to walk...	ORPHA:276435
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Small hand, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing imp...	OMIM:610185
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Bowing ...	ORPHA:429
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence...	OMIM:268305
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2233
Distal Limb Deficiencies-Micrognathia Syndrome	Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Micror...	ORPHA:1307
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Heari...	ORPHA:1856
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Pes cavus, Tremor, Rigidity, Ataxia	OMIM:617018
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl...	OMIM:613608
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Hypocalcemia, Short humerus, Sensorineural hearing impairmen...	OMIM:607143
Atelosteogenesis Type Iii	Hand clenching, Hip dislocation, Absent humerus, Elbow dislocation, Short tibia, Knee dislocation...	ORPHA:56305
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po...	OMIM:258860
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio...	ORPHA:968
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Sensorineural hearing impairment, Flat acetabular ro...	OMIM:271700
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Multiple Epiphyseal Dysplasia, Beighton Type	Hearing impairment, Genu valgum, Reduced proximal interphalangeal joint space, Pedal edema, Antal...	ORPHA:166011
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo...	ORPHA:1106
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn...	OMIM:251230
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand...	ORPHA:2878
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer...	OMIM:144300
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Limb undergro...	ORPHA:1803
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Abnormal metacarpal mo...	ORPHA:2370
Stuve-Wiedemann Syndrome 1	Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talip...	OMIM:601559
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Microtriplication 11Q24.1	Small hand, Joint dislocation, Hearing impairment, Speech apraxia, Genu valgum, Hyperlipidemia, H...	ORPHA:289522
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,...	ORPHA:52368
Generalized Epilepsy With Febrile Seizures-Plus	Tibial torsion, Talipes valgus, Incoordination, EEG with spike-wave complexes, Tremor, Limited kn...	ORPHA:36387
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Ankle clonus, Tr...	OMIM:616053
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear...	OMIM:617519
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Charcot-Marie-Tooth Disease Type 4D	Skewfoot, Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Decreased...	ORPHA:99950
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto...	OMIM:601596
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Low-set, posteriorly rotated ears,...	ORPHA:3320
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Exostoses, Multiple, Type Ii	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133701
Exostoses, Multiple, Type I	Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses, Short metacar...	OMIM:133700
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypoplasia of the ulna, ...	ORPHA:2491
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Shallow acetabular fossae, Proximal radio-ulnar synostosis, Radial bowing, Ulnar bowing, Sensorin...	OMIM:605432
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Abnormal joint morphology,...	ORPHA:93351
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Hearing impairment, Tremor	ORPHA:217012
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm	ORPHA:177910
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Hearing impairment, Knee dislocation...	OMIM:614078
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, EEG with spike-wave complexes, Pes cavus, Myoclonus, Tremor, Elevated circula...	OMIM:614018
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubi...	ORPHA:314795
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ...	ORPHA:521406
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Pes cavus, Trem...	OMIM:158580
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Micromelia, Heari...	ORPHA:1508
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Preaxial f...	ORPHA:1988
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia	OMIM:610947
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormal nerve conduction velocity, Hearing impairment, Abnormal mid...	OMIM:182290
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Broad-based gait, Short femoral neck, Pes cavus, Short humerus, Talipes equi...	OMIM:616716
Temple Syndrome	Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Hypercholesterolemia, Hypertrigly...	OMIM:616222
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Atax...	ORPHA:599373
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Nievergelt Syndrome	Genu valgum, Pes cavus, Radioulnar synostosis, Talipes equinovarus, Radial head subluxation, Meta...	OMIM:163400
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di...	OMIM:165300
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ...	ORPHA:2502
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Decreased motor nerve conduction velocity, Pes cavus, Gait ataxia, Ac...	OMIM:180800
Abruzzo-Erickson Syndrome	Protruding ear, Radioulnar synostosis, Hearing impairment, Macrotia	OMIM:302905
Auriculoosteodysplasia	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormal...	ORPHA:114
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen...	OMIM:615127
Lopes-Maciel-Rodan Syndrome	Small hand, Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unst...	OMIM:617435
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irregular acetabula...	OMIM:184252
Pentasomy X	Small hand, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Radioulnar ...	ORPHA:11
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Difficulty walki...	ORPHA:206443
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Thalidomide Embryopathy	Hearing impairment, Preaxial hand polydactyly, Radial club hand, Anotia, Aplasia/hypoplasia of th...	ORPHA:3312
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Pes cavus, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal py...	OMIM:607317
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Hearing impairment, Pes cavus, Distal upper limb amyotrophy, ...	ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Ataxia, Spastic paraplegia, Small hand, Shuffling gait, Spastic tetraplegia, Resting tremor, Micr...	OMIM:300055
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Charcot-Marie-Tooth Disease Type 1F	Head tremor, Hand muscle atrophy, Sensorineural hearing impairment, Flexion contracture of finger...	ORPHA:101085
Kyphomelic Dysplasia	Low-set ears, Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, F...	OMIM:211350
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidi...	ORPHA:240103
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,...	ORPHA:363400
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image f...	OMIM:119800
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Clumsiness...	OMIM:277460
Spinocerebellar Ataxia Type 37	Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Sensorineural hearing impairment, Tremor, Ga...	ORPHA:363710
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia	OMIM:264070
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Tetraparesis, Shoulder girdle muscle weakness, Elevated c...	OMIM:167320
Glycosylphosphatidylinositol Biosynthesis Defect 17	Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Chronic otitis media, Hypertriglycer...	OMIM:618010
Subacute Inflammatory Demyelinating Polyneuropathy	Absent patellar reflexes, Decreased motor nerve conduction velocity, Decreased amplitude of senso...	ORPHA:206594
Atypical Rett Syndrome	Small hand, Spasticity, Involuntary movements, Limb myoclonus, Pill-rolling tremor, Hand apraxia,...	ORPHA:3095
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ...	OMIM:307800
Desbuquois Syndrome	Genu recurvatum, Small hand, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly rot...	ORPHA:1425
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal...	OMIM:186500
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit...	ORPHA:216873
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD...	OMIM:615703
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia	ORPHA:306669
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas...	OMIM:616300
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Clinodactyly, Large fleshy ears, Pes cavus, Gait ataxia, Myoclonus, Tremor, Arachno...	OMIM:619092
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Limb ataxia, Pes cavus, Tremor, Bab...	ORPHA:251282
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu...	OMIM:600785
Ravine Syndrome	Spasticity, Abnormal auditory evoked potentials, Ataxia	ORPHA:99852
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Enlargement of the wrists, Tremor, Metaphyseal chondrodysplasia...	ORPHA:83629
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow dislocation, Knee dislocati...	OMIM:108721
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory...	OMIM:602471
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Broad finger, Optic disc pallor, Frequent falls, Abnormality...	OMIM:617523
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Frequent falls, Inability to walk, Absent Achilles reflex, Extrapyra...	ORPHA:93952
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor, E...	ORPHA:90117
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra...	OMIM:213600
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Hearing impairment, Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dyston...	ORPHA:139485
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s...	ORPHA:101110
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Abnormal joint morphology, Flared femora...	ORPHA:1427
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Camurati-Engelmann Disease	Ataxia, Optic atrophy, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, ...	ORPHA:1328
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Bulging epiphyses, Difficulty walking, Enlargement of the wrists...	OMIM:600081
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Conductive hearing impairment...	OMIM:156550
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Epilepsy, Progressive Myoclonic 7	EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia	OMIM:616187
Multiple Epiphyseal Dysplasia Type 5	Arthralgia of the hip, Abnormality of the epiphyses of the feet, Abnormal upper limb epiphysis mo...	ORPHA:93311
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai...	ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Rajab Interstitial Lung Disease With Brain Calcifications 2	Arachnodactyly, Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Weismann-Netter Syndrome	Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Dysdiadochokinesis, Clinodactyly, Radial ...	OMIM:157900
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Acromesomelic Dysplasia 4	Low-set ears, Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Promi...	OMIM:619636
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Metaph...	ORPHA:239
Cystathioninuria	Talipes equinovarus, Cystathioninemia, Abnormal pinna morphology, Tremor	ORPHA:212
Achondroplasia	Rhizomelia, Conductive hearing impairment, Radial bowing, Flared metaphysis, Recurrent otitis med...	OMIM:100800
Martsolf Syndrome 1	Low-set ears, Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis of ...	OMIM:212720
Dravet Syndrome	EEG with generalized epileptiform discharges, Tibial torsion, Incoordination, Cogwheel rigidity, ...	ORPHA:33069
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Hand muscle weakness, Diffi...	OMIM:302800
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hip dislocation, Coxa valga, Sensorineural hearing impairment	OMIM:109120
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
X-Linked Charcot-Marie-Tooth Disease Type 4	Hearing impairment, Decreased nerve conduction velocity, Pes cavus, Tremor, Gait disturbance, Ataxia	ORPHA:101078
2Q31.1 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal ti...	ORPHA:251014
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Sensorineural hearing...	ORPHA:440354
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston...	OMIM:617284
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Hand polydactyly, Abnormal metaca...	ORPHA:2167
Autosomal Recessive Omodysplasia	Low-set ears, Rhizomelia, Elbow dislocation, Micromelia, Pterygium, Abnormal femur morphology, Mi...	ORPHA:93329
Fibrous Dysplasia Of Bone	Lower limb asymmetry, Hearing impairment, Increased circulating cortisol level, Abnormal tibia mo...	ORPHA:249
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes e...	OMIM:108720
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Ankle clonus, Tremor, Babinski sign, Spastic ...	OMIM:611302
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n...	OMIM:610532
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Tetraparesis, Femoral bowin...	OMIM:602080
Smith-Magenis Syndrome	Toe syndactyly, Conductive hearing impairment, Micrognathia, Hand polydactyly, Gait disturbance, ...	ORPHA:819
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia...	ORPHA:1368
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Neurodegeneration With Brain Iron Accumulation 7	Pes cavus, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circul...	OMIM:617916
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Small hand, Optic atrophy, Upper limb undergrowth, Micrognathia, Knee ...	OMIM:608799
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Tetraparesis, Irregular epiphyses, Sensorineural hearing imp...	OMIM:619260
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Joint dislocation, Shoulder f...	OMIM:193700
Hypermanganesemia With Dystonia 2	Spasticity, Elevated circulating creatine kinase concentration, Tip-toe gait, Generalized dystoni...	OMIM:617013
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Spinocerebellar Ataxia 38	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Tip-toe gait, Elbow flexion contracture, Increased LDL c...	ORPHA:98863
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to...	ORPHA:2590
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Tip-toe gait, Elbow flexion contracture, Increased LDL c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Tip-toe gait, Elbow flexion contracture, Increased LDL c...	ORPHA:98853
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Sensorineural hearing imp...	ORPHA:99027
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Slender long bone	ORPHA:1506
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Tip-toe gait, Elbow flexion contracture, Increased LDL c...	ORPHA:98855
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity	ORPHA:1765
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Sensorineural ...	OMIM:144750
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Micrognathia, Hypertriglyceridemia	ORPHA:436182
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ...	ORPHA:3429
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc...	ORPHA:93328
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Hearing impairment, Generalized dystonia, Postural tremor, Pes cavus, Gait ...	ORPHA:98808
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Hip dislocation, Capitate-hamate fusion, Toe syndac...	OMIM:206920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Pes pla...	OMIM:618395
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Micr...	ORPHA:2097
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Short 4th metacarpa...	OMIM:619638
Phenylketonuria	Tremor, Lower limb spasticity, Hyperphenylalaninemia, EEG abnormality, Ataxia	ORPHA:716
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Broad-based gait, Spasticity, Tetrapa...	ORPHA:206448
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Marshall Syndrome	Low-set ears, Hypoplastic ilia, Radial bowing, Recurrent otitis media, Irregular femoral epiphysi...	OMIM:154780
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Metaphyseal cupping, Joint dislocation, Radial bowing, Short femoral neck, Broad hall...	OMIM:618019
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Pes cavus, Tremor, Ataxia, Bilateral sensorineural hearing impairment, Clinodactyl...	OMIM:619422
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Abnormal motor evoked potentials, Resting tremor, Abnormal tibia...	ORPHA:909
Monomelic Amyotrophy	Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,...	ORPHA:65684
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Hearing impair...	OMIM:277440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Bulging epiphyses, Difficulty walking, Enlargement of the wrists...	OMIM:241530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity...	OMIM:218000
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Absent hand, Aplasia/Hyp...	ORPHA:570
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Recur...	OMIM:164745
Classical-Like Ehlers-Danlos Syndrome Type 2	Radioulnar dislocation, Joint dislocation, Elbow dislocation, Sandal gap, Knee dislocation, Macro...	ORPHA:536532
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, EEG with spike-wave complexes, Gait ataxia, EEG with polyspike wave complexes, Myoclonus,...	OMIM:618587
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,...	ORPHA:2557
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Hyperlipidemia, Gait disturbance, Tetraplegia, Mildly elevated creat...	OMIM:604484
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete...	ORPHA:2751
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Pes cavus, Tremor, Gait di...	ORPHA:99014
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Delayed cranial suture closure, Micrognathia, Short ...	ORPHA:2457
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Postaxial poly...	OMIM:617925
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla...	ORPHA:1147
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Abnormality of the Achilles tendon, Tremor, Rigidity, Hypore...	ORPHA:98763
Glut1 Deficiency Syndrome 2	Tremor, Reduced haptoglobin level, EEG abnormality, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Spastic paraplegia, Absent Achilles reflex, Pes cavus, Sensorineural hearing impai...	ORPHA:1215
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys...	OMIM:123000
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat...	OMIM:605282
Xp21 Deletion Syndrome	Spasticity, Finger clinodactyly, Recurrent otitis media, Elevated circulating creatine kinase con...	ORPHA:261476
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Interictal EEG abnormality, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsines...	ORPHA:79263
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal joint morphology, Abnormality of the wrist, Abnormal femu...	ORPHA:3130
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal...	ORPHA:363417
Spinocerebellar Ataxia 18	Pes cavus, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Leg muscle stiffness, Restin...	ORPHA:391411
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas...	OMIM:159950
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Pes cavus, Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait...	OMIM:616505
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram...	OMIM:617145
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Abnormal pelvic girdle bone morphology, Resting tremor, Pes cavus, Gait ataxi...	OMIM:601162
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia	OMIM:128235
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Difficulty wal...	OMIM:264700
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Hearing impairment, Tremor	ORPHA:79234
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Syngap1-Related Developmental And Epileptic Encephalopathy	Poor coordination, Tremor, Postaxial polydactyly, Gait disturbance, Ataxia, Anteverted ears, Macr...	ORPHA:544254
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Low-frequency sensorineural hearing impairment, Hypertriglyceridemia, Increased circulating ferri...	OMIM:613101
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Gait ataxia, EEG with occipital epileptiform discharges, Dysmetria, Myoclonus, Tre...	ORPHA:254881
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph...	OMIM:222765
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Dystonia, EEG abnormality, Ataxia, Bradykinesia	OMIM:617836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Pes cavus, Tremor, Elevated circulating creati...	OMIM:208920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planu...	ORPHA:457395
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Short ribs, 2-3 toe ...	OMIM:617866
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hemiple...	OMIM:267700
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ...	OMIM:612736
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb short...	OMIM:151210
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Increased phytanic acid:pristanic a...	OMIM:614307
Saccharopinuria	Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme...	ORPHA:3124
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
Tibial Hemimelia	Absent tibia	OMIM:275220
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo...	ORPHA:247585
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Fibrochondrogenesis 1	Low-set ears, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, ...	OMIM:228520
Osteogenesis Imperfecta, Type V	Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Wormian bones, Limited ...	OMIM:610967
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal...	ORPHA:2319
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Spinocerebellar Ataxia 7	Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio...	OMIM:164500
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait disturbance, H...	OMIM:300957
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ...	OMIM:607876
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Hearing impairment, Micrognathia, Tremor, Prominent protruding coccyx, Protruding e...	ORPHA:480907
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo...	OMIM:618049
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Pes cavus, Dysmetria, Sensorineural hearing imp...	OMIM:614867
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Tremor,...	ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Pes cavus, Tremor, Triceps weakness, Impaired tandem gait, In...	OMIM:619574
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single transverse palmar creases, T...	OMIM:143095
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Lower limb...	OMIM:616881
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Pes cavus, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic ...	ORPHA:329284
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Dysmetria, Tremor, Apraxia, EEG abnorm...	OMIM:617810
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid...	OMIM:600116
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Sensorineural hearing impairment, Radioulnar synostosis, Limited pronation/s...	OMIM:616738
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia	ORPHA:280356
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Pes cavus, Dysmetria, Tremor, Ataxia, Unste...	OMIM:213200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Hearing impairment, Resting tremor, Incoordination, Limb ataxia, Gait ataxia...	OMIM:615157
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ...	ORPHA:209335
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb und...	ORPHA:453510
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Low-set ears, Short 4th toe, Short humerus, Brachydactyly, Poor coordinatio...	ORPHA:420794
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,...	OMIM:618853
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Limb ataxia, Gait ataxia, Tremor, Talipes equinovarus, Frequent falls	OMIM:616719
Prader-Willi Syndrome	Small hand, Poor fine motor coordination, Radial deviation of finger, Clinodactyly, Decreased HDL...	OMIM:176270
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Tremor, Leth...	ORPHA:765
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti...	OMIM:260660
Seckel Syndrome 10	Cone-shaped epiphysis, Microretrognathia, Slender long bone, Metaphyseal widening, Hypertriglycer...	OMIM:617253
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
48,Xxyy Syndrome	Ataxia, Elbow dislocation, Abnormal shoulder morphology, Tremor, Talipes, Radioulnar synostosis, ...	ORPHA:10
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:300554
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotated ears, R...	ORPHA:958
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Hip dislocation, Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abn...	OMIM:614381
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Hypobetalipoproteinemia, Familial, 1	Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol c...	OMIM:615558
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Oslam Syndrome	Radioulnar synostosis, Radial deviation of finger, Clinodactyly	OMIM:165660
W Syndrome	Spasticity, Radial bowing, Elbow dislocation, Clinodactyly, Pes cavus, Cubitus valgus, Pes planus...	ORPHA:2804
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, H...	OMIM:619135
Myoclonic-Astatic Epilepsy	Ataxia, EEG with irregular generalized spike and wave complexes, EEG with polyspike wave complexe...	ORPHA:1942
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata...	OMIM:261640
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Single transverse palmar crease, Hyperkinetic movements, Gait disturbance, Hip dysplasia,...	ORPHA:457240
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ...	OMIM:614900
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Facial paralysis, Fractures of the lo...	OMIM:166600
Trisomy 10P	Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, Short toe, Thumb cont...	ORPHA:171929
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Hearing impairment, Femoral bowing, Bowing of the long bones, Abnor...	ORPHA:1860
Osteogenesis Imperfecta, Type Xiv	Femoral bowing, Sensorineural hearing impairment	OMIM:615066
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Coarse metaphyseal trabecularization, Abnormal hip bone morphology, Genu valgu...	ORPHA:93160
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping toe, Small ep...	OMIM:616723
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, EEG abnormality, Tremor, Ataxia	OMIM:617831
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Optic atrophy, Hearing impairment, Leg muscle stiffness, Difficulty walking, Tremor, Loss of ambu...	ORPHA:137898
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct...	ORPHA:2876
Amish Nemaline Myopathy	Tremor, Shoulder flexion contracture, Hip contracture	ORPHA:98902
Seckel Syndrome 1	Ivory epiphyses, Low-set ears, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contractu...	OMIM:210600
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Fanconi-Bickel Syndrome	Bowing of the long bones, Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Myopathy With Extrapyramidal Signs	Optic atrophy, Extremely elevated creatine kinase, Difficulty walking, Chorea, Tremor, Abnormalit...	OMIM:615673
Tangier Disease	Facial diplegia, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, De...	OMIM:205400
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Block vertebrae, Abnormal pelvic girdle bone morphology, Hypoplasia of the ...	OMIM:272460
Behr Syndrome	Optic atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance, Achilles tendon contracture, A...	OMIM:210000
4Q21 Microdeletion Syndrome	Low-set ears, Small hand, Toe syndactyly, Micromelia, Hearing impairment, Tremor, Short foot, Sho...	ORPHA:238750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Pes cavus, Gait ataxia, Tremor, Pes planus, Brachydactyly, Short foot, Ab...	OMIM:300354
Orofaciodigital Syndrome X	Finger aplasia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polydactyly	OMIM:165590
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Tremor, Rigidity, Dyst...	OMIM:606693
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Recurrent otitis media, Optic d...	OMIM:608940
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Congenital Generalized Lipodystrophy	Long foot, Hypercholesterolemia, Large hands, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc...	OMIM:619405
Reni Syndrome	Ataxia, Hypoalbuminemia, Hypertriglyceridemia, Sensorineural hearing impairment	OMIM:617575
Oncogenic Osteomalacia	Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemi...	ORPHA:352540
Ataxia With Vitamin E Deficiency	Pes cavus, Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, ...	ORPHA:96
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Crumpled ear, Abnormal epiphy...	ORPHA:1458
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of...	ORPHA:99750
Developmental And Epileptic Encephalopathy 32	Tremor, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia	OMIM:616366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Athetosis, Difficulty walking, Inability to walk, Speech apraxia, Chorea, Tremor, Elevated circul...	OMIM:615356
Al-Gazali Syndrome	Broad distal phalanx of finger, Micrognathia, Bowed humerus, Wrist flexion contracture, Bilateral...	OMIM:609465
Occipital Horn Syndrome	Synostosis of joints, Aplastic clavicle, Delayed cranial suture closure, Abnormality of the wrist...	ORPHA:198
Mesomelia-Synostoses Syndrome	Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Hearing impairment, Progres...	OMIM:600383
Acromelic Frontonasal Dysostosis	Low-set ears, Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly...	OMIM:603671
Campomelic Dysplasia	Small abnormally formed scapulae, Low-set ears, Hearing impairment, 11 pairs of ribs, Femoral bow...	ORPHA:140
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Overlapping fin...	ORPHA:401973
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Broad-based gait, Sandal gap, Abnormal earlobe morphology, Camptodact...	ORPHA:85293
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Cerebral palsy...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Cerebral palsy...	ORPHA:529808
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti...	OMIM:187600
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Dystonia, Abnormali...	OMIM:613280
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Aplasia/H...	ORPHA:2911
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Low-set ears, Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Sensorine...	ORPHA:959
Immunodeficiency 43	Hypoalbuminemia, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoplasia of t...	OMIM:241600
Bruck Syndrome 2	Pterygium, Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Wormian bones, Ta...	OMIM:609220
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul...	OMIM:212780
Cardiofaciocutaneous Syndrome	Optic atrophy, Palmoplantar keratoderma, Low-set, posteriorly rotated ears, Genu valgum, Abnormal...	ORPHA:1340
Neutral Lipid Storage Disease With Ichthyosis	Shoulder girdle muscle weakness, Difficulty walking, Abnormal circulating creatine kinase concent...	ORPHA:98907
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Wormian bones, Limb unde...	OMIM:166210
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Slender long bone, Hearing impairment, Upper limb undergrowth, EEG with generalized...	ORPHA:369837
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Hearing im...	ORPHA:206436
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hemiple...	OMIM:603553
Acrorenal-Mandibular Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture...	OMIM:200980
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Structural foot deformity, Decreased nerve conduction velocity, Tremor, Arthritis, Bilateral sens...	ORPHA:397744
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Generalized dystonia, Pes cavus, Tremor, Abnormality of extrapyramidal...	OMIM:614298
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog...	ORPHA:1422
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Tremor, Single transverse palmar crease, Hypsarrhythmia, Hypertonia, Clinodactyly o...	OMIM:608093
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Pes cavus, Tremor, Gait dist...	ORPHA:98764
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Arthritis, Hypertriglyceridemia	OMIM:617591
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesis, Myoclonus...	ORPHA:282166
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Head titubation, Absent brainstem auditory response...	ORPHA:3240
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Hyperphenylalaninemia, Dysto...	OMIM:233910
Osteogenesis Imperfecta, Type Xiii	Hearing impairment, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphysis, Arachno...	OMIM:614856
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Otopalatodigital Syndrome, Type Ii	Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormal foot morphology, Abnormality of coordination, Limb dy...	ORPHA:352649
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Crumpled ear, Conductive hearing impairment, Hypopl...	OMIM:600373
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Shoulder flexion contracture, Hip contracture	OMIM:605355
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Conductive hearing impair...	OMIM:607634
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Delayed cranial suture c...	OMIM:309350
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Difficulty walking, Abnormality of coordination...	ORPHA:442835
Tay-Sachs Disease	Hearing impairment, Incoordination, Poor fine motor coordination, Inability to walk, Limited elbo...	ORPHA:845
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Low-set ears, Conductive hearing impairment, Sandal gap, Finger syndactyly, Dee...	ORPHA:254346
Dent Disease 1	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:300009
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hearing impairment, Short humerus, Sensorineural hearing impairment, Bowing of...	OMIM:239000
Osteogenesis Imperfecta, Type Iii	Slender long bone, Hearing impairment, Micrognathia, Tibial bowing, Wormian bones, Protrusio acet...	OMIM:259420
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Hypertriglyceridemia, Sensorineural hearing impairment	OMIM:615381
Duane-Radial Ray Syndrome	Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes planus, Small thenar eminence,...	OMIM:607323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,...	OMIM:618877
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Micrognathia, Myoclonus, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abs...	ORPHA:1352
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula...	ORPHA:48818
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol...	ORPHA:2307
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar a...	ORPHA:221016
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the wrist, Absent hand, P...	ORPHA:3138
Cockayne Syndrome A	Optic atrophy, Abnormal auditory evoked potentials, Square pelvis bone, Hypoplastic iliac wing, D...	OMIM:216400
Pelizaeus-Merzbacher Disease	Optic atrophy, Broad-based gait, Spastic paraplegia, Hearing impairment, Generalized dystonia, In...	OMIM:312080
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Hear...	ORPHA:1452
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Ulnar deviat...	OMIM:142900
Cockayne Syndrome Type 1	Optic atrophy, Foot joint contracture, Hearing impairment, Difficulty walking, Abnormality of per...	ORPHA:90321
Antley-Bixler Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Low-set, posteriorly rotated ears, Femor...	ORPHA:83
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Lower limb asymmetry, Polyarticular arthritis, Enlargement of the wrists,...	ORPHA:289176
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Hearing impairment, Difficulty walking, Flexion contracture of fin...	ORPHA:466768
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Paraplegia, Genu valgum, Micrognathia, Ta...	OMIM:271640
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture of metaphysis, Genu varum, Ava...	ORPHA:93315
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Focal EEG discharges with secondary generalizat...	ORPHA:3077
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral ...	OMIM:619127
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Inability to walk, Absent Achilles reflex, Tremor, Babinski ...	OMIM:128100
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Tremor, Fasciculations	OMIM:313200
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia	OMIM:603471
Neutral Lipid Storage Disease With Myopathy	Hearing impairment, Fasciculations, Difficulty walking, Sensorineural hearing impairment, Elevate...	OMIM:610717
Griscelli Syndrome Type 1	Hyperlipidemia, Hypertonia, Ataxia	ORPHA:79476
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Macrotia...	ORPHA:175
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Difficulty walking, Enlargement o...	ORPHA:289157
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Partial absence of thumb, Gait ataxia, Micrognathia, Tremor, 2-3 toe s...	ORPHA:476126
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia...	ORPHA:529665
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Symphalangism of the thumb, Cupped ear, Short toe, Clinodactyly, Finger joint contr...	OMIM:620494
Gm1 Gangliosidosis	Low-set ears, Optic atrophy, Spasticity, Coarse metaphyseal trabecularization, Abnormal epiphysis...	ORPHA:354
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia	OMIM:604367
Jaberi-Elahi Syndrome	Low-set ears, Hand clenching, Optic atrophy, Broad-based gait, Inability to walk, Gait ataxia, Dy...	OMIM:617988
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Short thumb, Camptodactyly of finger...	ORPHA:90652
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly...	ORPHA:84
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasia, Finger symp...	ORPHA:221008
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Micrognathia, Hypertriglyceridemia, Acroosteolysis of di...	ORPHA:280365
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Oslam Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
48,Xxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Tremor, Down-sloping shoulders, Radioulnar syno...	ORPHA:96263
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr...	ORPHA:158061
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Atresia of the external auditory canal, Micrognath...	ORPHA:199
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Clinodactyly, Micrognathia, Talipes equinovarus, Large hands, Absent earlobe, Genu ...	OMIM:264090
Meier-Gorlin Syndrome 1	Low-set ears, Joint contracture of the hand, Small hand, Elbow dislocation, Hearing impairment, A...	OMIM:224690
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
H Syndrome	Hearing impairment, Hallux valgus, Pes planus, Hypertriglyceridemia, Camptodactyly	ORPHA:168569
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Square pelvis bone, Hypoplastic iliac wing, D...	OMIM:133540
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic nervo...	OMIM:300894
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Hearing impairment, Hemiatrophy, Stippled cal...	OMIM:302960
Myopathy, Mitochondrial, And Ataxia	Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Micrognathia, Pes cavus, ...	OMIM:617675
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy...	OMIM:615503
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Alstrom Syndrome	Progressive sensorineural hearing impairment, Decreased HDL cholesterol concentration, Otitis med...	OMIM:203800
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Micrognathia, Hyperlipidemia, Short clavicles, Wormian bones, Acr...	OMIM:608612
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment, Femoral bowing	OMIM:126550
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Cupped ear, Short thumb, Conductive hearing impairment,...	OMIM:263750
Mogs-Cdg	Optic atrophy, Overlapping fingers, Sensorineural hearing impairment, Absent brainstem auditory r...	ORPHA:79330
Marbach-Schaaf Neurodevelopmental Syndrome	Hemidystonia, Recurrent otitis media, Speech apraxia, Tremor, Brachydactyly, Torticollis, Posteri...	OMIM:619680
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Head tremor, Limb ataxia, Gait ataxia, Pes cavus, Chor...	OMIM:606002
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Tip-to...	ORPHA:99956
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
49,Xxxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Tremor, Down-sloping shoulders, Radioulnar syno...	ORPHA:96264
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Spasticity, Hemiplegia, Metaphyseal sclerosis, Genu valgum, Tremor, Abnormality of...	OMIM:612199
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Wolfram Syndrome 1	Optic atrophy, Limited mobility of proximal interphalangeal joint, Hearing impairment, Tremor, Se...	OMIM:222300
Orofaciodigital Syndrome Vi	Low-set ears, Toe syndactyly, Conductive hearing impairment, Clinodactyly, Radial deviation of fi...	OMIM:277170
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Hearing impairment, Hyperlipidemia, Aplasia/Hypoplasia of the cla...	ORPHA:90153
Mycetoma	Structural foot deformity, Abnormal forearm bone morphology, Paraplegia, Abnormality of the hand,...	ORPHA:2583
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:435660
Osteogenesis Imperfecta, Type I	Otosclerosis, Hearing impairment, Femoral bowing, Wormian bones, Hip dysplasia, Finger joint hype...	OMIM:166200
Japanese Encephalitis	Talipes equinovarus, Opisthotonus, Choreoathetosis, Cogwheel rigidity, Distal lower limb muscle w...	ORPHA:79139
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Sensorineura...	ORPHA:540
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Bowed humerus, Hip dislocation, Thin long bone diaphyses	OMIM:616507
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Hypoplasia of the odontoid process, ...	OMIM:250250
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Spasticity, Recurrent otitis media, Action tremor, Synovitis, Ataxia, Absent earlob...	ORPHA:3455
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari...	OMIM:600501
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Microretrognathia, Contracture of the...	OMIM:300998
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Bowing of...	OMIM:130070
Familial Multiple Lipomatosis	Bowing of the long bones, Hyperlipidemia	ORPHA:199276
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Ataxia, Spasticity, Spastic paraparesis, Hearing impairment, Decreased nerve conduction velocity,...	OMIM:609136
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Hypoplastic scapulae, Clinodactyly, Abnormal earlobe morphology, Humeroradial synos...	ORPHA:95699
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Wormian bones, Femoral bowing, Micrognathia	OMIM:617952
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Delayed cranial suture closure, Elbow flexion contracture, Microg...	OMIM:248370
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD...	OMIM:278000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath...	OMIM:210710
Chédiak-Higashi Syndrome	Spastic paraplegia, Increased circulating ferritin concentration, Inability to walk, Decreased ne...	ORPHA:167
3Mc Syndrome	Low-set ears, Caudal appendage, Hearing impairment, Large fleshy ears, Radioulnar synostosis, Lim...	ORPHA:293843
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Hyperuricemia, Hypertriglyceridemia	ORPHA:79083
Joubert Syndrome	Low-set ears, Tremor, Aganglionic megacolon, Hand polydactyly, Gait disturbance, Oculomotor aprax...	ORPHA:475
Campomelic Dysplasia	Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Hypoplastic cervical vertebr...	OMIM:114290
Gabriele-De Vries Syndrome	Low-set ears, Sandal gap, Tip-toe gait, Micrognathia, Tremor, Simple ear, Hallux valgus, Long fin...	OMIM:617557
Neutral Lipid Storage Myopathy	Hand muscle weakness, Difficulty walking, Shoulder girdle muscle weakness, Fasciculations, Abnorm...	ORPHA:98908
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Poste...	OMIM:619479
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the radius, Short thumb, Aplasia/Hypoplasia of the patella, Metaphyseal str...	ORPHA:2909
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Ataxia, Spasticity, Microretrognathia, Hearing impairment, Gait imbalance, Tremor, ...	OMIM:300966
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Immunodeficiency 97 With Autoinflammation	Recurrent otitis media, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Hydrolethalus Syndrome 1	Low-set ears, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovaru...	OMIM:236680
Bartsocas-Papas Syndrome 1	Axillary pterygium, Low-set ears, Hypoplastic scapulae, Popliteal pterygium, Absent thumb, Short ...	OMIM:263650
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go...	ORPHA:412
Orofaciodigital Syndrome Type 6	Conductive hearing impairment, Finger clinodactyly, Preaxial polydactyly, Low-set, posteriorly ro...	ORPHA:2754
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Low-set ears, Carpal synostosis, Micrognathia, Patellar aplasia, Lim...	OMIM:218600
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Hyperlipidemia, Apla...	ORPHA:90154
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Lipodystrophy, Familial Partial, Type 6	Pes cavus, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatin...	OMIM:615980
Obesity Due To Congenital Leptin Deficiency	Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia	ORPHA:66628
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Elbow flexion contracture, Clubbi...	OMIM:256040
Obesity Due To Leptin Receptor Gene Deficiency	Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia	ORPHA:179494
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Tremor, Aganglionic megacolon, Hand polydactyly, Gait disturba...	ORPHA:220497
Osteogenesis Imperfecta, Type Viii	Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Wormian bones, Femoral retrovers...	OMIM:610915
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Hypoalbuminemia, Hypomagnesemia, Micrognathia, Hypocalcemia, Hyponatremia, Hypertri...	OMIM:618183
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Tremor, Aganglionic megacolon, Hand polydactyly, Gait disturba...	ORPHA:220493
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Cidec-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertriglyceridemia	ORPHA:435651
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat...	OMIM:207750
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Hearing impairment, Paraplegia, Limb ataxia, Tremor, Sensorineur...	OMIM:105210
Aredyld Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Abnormal tragus morpho...	ORPHA:1133
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv...	ORPHA:98773
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Short humerus, Hypertonia, EEG with generalized slow activity, Exaggerated startle re...	OMIM:618367
Tetanus	Autonomic bladder dysfunction, Tremor, Rigidity, Elevated circulating creatine kinase concentrati...	ORPHA:3299
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Hemiplegia, Hypoplastic pelvis, Hyperlipidemia, Hemiparesis, Abnormal ...	ORPHA:1830
Endocrine-Cerebroosteodysplasia	Low-set ears, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Tibial ...	OMIM:612651
Occipital Horn Syndrome	Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Genu valg...	OMIM:304150
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Leg muscle stiffness, Tremor...	OMIM:615530
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Myoclonus, Short humerus, Sensorineural hearing impairment, Polydactyly, Hyperkinetic movements, ...	ORPHA:17
Asparagine Synthetase Deficiency	Hypoasparaginemia, Long foot, EEG with burst suppression, Micrognathia, Tremor, Simple ear, Hypsa...	OMIM:615574
Intellectual Disability, Buenos-Aires Type	Spastic gait, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Macrotia	ORPHA:3079
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea...	ORPHA:199351
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius	OMIM:314390
Alagille Syndrome 1	Low-set ears, Short distal phalanx of finger, Hypercholesterolemia, Hypoplasia of the ulna, Hyper...	OMIM:118450
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Low-set ears, Absent crus of helix, Joint dislocation, Finger sy...	ORPHA:2753
Catel-Manzke Syndrome	Low-set ears, Hyperphalangy of the 2nd finger, Joint dislocation, Short toe, Ulnar deviation of t...	OMIM:616145
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Decreased ...	ORPHA:470
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ...	OMIM:168600
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Early Infantile Epileptic Encephalopathy	Spasticity, Short finger, Episodic ataxia, EEG with burst suppression, Broad phalanx of the toes,...	ORPHA:1934
Cranioectodermal Dysplasia 1	Low-set ears, Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviati...	OMIM:218330
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radi...	OMIM:134780
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia, Abnormal synaptic ...	ORPHA:683
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Hyperlysinemia	Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Hypoornithinemia, Tip-...	ORPHA:2203
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Ulbright-Hodes Syndrome	Low-set ears, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synos...	ORPHA:3404
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Small hand, Incoordination, Tremor, Single transverse palmar crease, Abnormal pyra...	OMIM:614947
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Spasticity, Finger syndactyly, Hearing impairment, Decr...	ORPHA:110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Abnormal ilium morphology, Short distal phalanx of finger, Spasticity, Cupped ear, ...	OMIM:614080
Harrod Syndrome	Arachnodactyly, Abnormal pelvic girdle bone morphology, Protruding ear, Abnormal shoulder morphology	ORPHA:2115
Osteogenesis Imperfecta, Type X	Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tibial bowing, Bowing of the l...	OMIM:613848
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	OMIM:613327
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Hearing impairment, Optic nerve compression, Otitis media, Tremor,...	ORPHA:667
Sclerosteosis 1	Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Hearing impairment, 2...	OMIM:269500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:264580
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Kinsship Syndrome	Low-set ears, Spastic tetraparesis, Micrognathia, Myoclonus, Single transverse palmar crease, Pol...	OMIM:619297
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal cir...	OMIM:612716
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Short distal phalanx of finger, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Talipes e...	ORPHA:3027
Gaisböck Syndrome	Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circ...	ORPHA:90041
Atypical Werner Syndrome	Chondrocalcinosis, Finger clinodactyly, Micrognathia, Intervertebral disk degeneration, Abnormali...	ORPHA:79474
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli...	OMIM:615947
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia	ORPHA:158048
Charge Syndrome	Low-set ears, Micrognathia, Sensorineural hearing impairment, Radial head subluxation, Absent rad...	OMIM:214800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Fibular aplasia, Micr...	OMIM:300373
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Gait ataxia, Dysmetria, Tinnitus, Babinski sign, Clonus, Orthostatic hypotension, H...	OMIM:606721
Aspartylglucosaminuria	Abnormal morphology of ulna, Pes planus, Arthritis, Chronic otitis media, Microtia	ORPHA:93
Orofaciodigital Syndrome Type 1	Ataxia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand p...	ORPHA:2750
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Broad fo...	OMIM:201750
Werner Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:277700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia	ORPHA:2089
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Hypomagnesemia, Abnormal circulating biopterin concentration, ...	ORPHA:1578
Lipodystrophy, Congenital Generalized, Type 2	Long foot, Large hands, Hypertriglyceridemia, Elevated hemoglobin A1c, Macrotia	OMIM:269700
Parkinson Disease 21	Bradykinesia, Parkinsonism, Tremor, Rigidity	OMIM:616361
Glycerol Kinase Deficiency	Low-set ears, Hyperglycerolemia, Lethargy, Hypertriglyceridemia	OMIM:307030
Hyperlipoproteinemia, Type I	Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Hearing impairment, Rhizomelic arm shortening, Short humerus, Brachydactyly, Short metacarpal	ORPHA:508542
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Bilateral sensorineural hearing impairment, Microretrognathia, Profound hearing impairment, Hyper...	OMIM:619418
Metachromatic Leukodystrophy	Tip-toe gait, Hearing impairment, Decerebrate rigidity, Incoordination, Decreased nerve conductio...	ORPHA:512
Lipodystrophy, Congenital Generalized, Type 1	Long foot, Hypertriglyceridemia, Large hands, Macrotia	OMIM:608594
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Tremor, 2-3 toe syndactyly, Babinski sign, Hypertonia, Elevated hemoglobin A1c	OMIM:616539
Aromatase Deficiency	Delayed epiphyseal ossification, Genu valgum, Hyperlipidemia	ORPHA:91
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:79259
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Spasticity, Abnormal foot morphology, Akinesia, Tremor, Rigidity, D...	OMIM:234200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Abnormal thumb morphology, Tibi...	ORPHA:500095
Griscelli Syndrome Type 2	Hyperlipidemia, Hypertonia	ORPHA:79477
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia	ORPHA:275761
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone...	ORPHA:289
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Micrognathia, Sensorineural hea...	ORPHA:250984
Cerebrocostomandibular Syndrome	Low-set ears, Congenital hip dislocation, Conductive hearing impairment, Elbow flexion contractur...	OMIM:117650
Familial Chylomicronemia Syndrome	Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia	ORPHA:444490
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, Abnormal autonomic nervou...	OMIM:146500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Cupped ear, Hearing impairment, Conductive hearing impairment, Hypoplasia of proximal...	ORPHA:444077
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Pedal edema, Increased al...	ORPHA:86816
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Increa...	ORPHA:77293
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Micrognathia, Abnormal metacarpal morphology, Absent radius, Absent e...	OMIM:268300
Tangier Disease	Hypocholesterolemia, Facial diplegia, Hypertriglyceridemia	ORPHA:31150
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Fabry Disease	Optic atrophy, Hearing impairment, Abnormal circulating lipid concentration, Abnormal femur morph...	ORPHA:324
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia	OMIM:619573
Combined Deficiency Of Factor V And Factor Viii	Joint hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa...	OMIM:601104
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia...	ORPHA:157
Woodhouse-Sakati Syndrome	Hearing impairment, Hyperlipidemia, Sensorineural hearing impairment, Protruding ear, Abnormality...	OMIM:241080
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia...	ORPHA:228308
Peters-Plus Syndrome	Low-set ears, Square pelvis bone, Hearing impairment, Micrognathia, Broad foot, Limited elbow mov...	OMIM:261540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen, Hem...	OMIM:235400
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormality of the shoulder girdle musculature, Hyperlipidemia, Elevated circulating creatine kin...	ORPHA:565612
Glycogen Storage Disease Ia	Hyperlipidemia, Xanthelasma, Gout, Hyperuricemia	OMIM:232200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone suppression test, H...	ORPHA:189427
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperlipidemia, Sensorineural hearing impairment, Hyponatremia, Brachydactyly, Abnormal autonomic...	ORPHA:293987
Glycogen Storage Disease Ib	Hyperlipidemia, Xanthelasma, Gout, Hyperuricemia	OMIM:232220
Alström Syndrome	Progressive sensorineural hearing impairment, Short toe, Short finger, Incoordination, Hyperlipid...	ORPHA:64
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia, Pedal edema	ORPHA:567546
Woodhouse-Sakati Syndrome	Hyperlipidemia, Protruding ear, Bilateral sensorineural hearing impairment, Dystonia, Choreoathet...	ORPHA:3464
Glycogen Storage Disease Ic	Hyperlipidemia, Xanthelasma, Gout, Hyperuricemia	OMIM:232240
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Optic neuropathy, Hypercholesterolemia	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

Adult LacZ

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Col9a2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data