Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Gars1 MGI:2449057

Gene Summary

Name:

glycyl-tRNA synthetase 1

Synonyms:

Gena201, Gars, GENA202, Sgrp23

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 skin morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Gars1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal sternum morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
small spleen	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
decreased exploration in new environment	Gars1^em1(IMPC)Tcp	HET	Early adult	1.46×10^-05
abnormal stomach morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal eye morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Gars1^em1(IMPC)Tcp	HOM	E9.5	0.00
increased circulating triglyceride level	Gars1^em1(IMPC)Tcp	HET	Early adult	8.66×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

168 Images

View images

Eye Morphology

Images Slit Lamp

117 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Eye Morphology

Images Ophthalmoscopy

96 Images

View images

Eye Morphology

Images Slit Lamp

3 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Histopathology

Images

19 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Electrocardiogram (ECG)

Waveform Image

1 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Histopathology

Images

6 Images

View images

Human diseases caused by Gars1 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 Gars1 (4 diseases)
Human diseases predicted to be associated with Gars1 (766 diseases)

The table below shows human diseases associated to Gars1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, First do...	ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir...	OMIM:600794
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir...	OMIM:601472
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc...	OMIM:619042

The table below shows human diseases predicted to be associated to Gars1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Peroneal mu...	ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu...	OMIM:605726
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di...	OMIM:607678
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di...	OMIM:302801
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist...	OMIM:608323
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The...	OMIM:614751
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness	OMIM:605589
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, P...	OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Proximal musc...	OMIM:616687
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,...	OMIM:613287
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, First do...	ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri...	OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Hammertoe, Distal muscle weakness, Thenar muscle atrophy	OMIM:620111
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ...	OMIM:616040
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ...	OMIM:620068
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ...	OMIM:616199
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Foot dorsiflexor weakn...	OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy	Hand muscle weakness, Fatiguable weakness of proximal limb muscles, Decreased nerve conduction ve...	ORPHA:2932
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Distal upper ...	OMIM:618912
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di...	OMIM:605253
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax...	OMIM:607706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a...	OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac...	OMIM:607684
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ...	OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ...	OMIM:619112
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor...	OMIM:601382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor...	OMIM:618138
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye...	OMIM:162500
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration	ORPHA:868
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Hammertoe, ...	OMIM:600361
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D...	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di...	OMIM:619519
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera...	ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima...	OMIM:618655
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Distal muscle weakness, Decreased nerve conduction velocity, Upper limb muscle weakness, Distal a...	OMIM:302802
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity, Upper limb...	ORPHA:99939
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc...	OMIM:609311
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp...	DECIPHER:29
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal degene...	OMIM:302800
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Intrinsic hand muscle atrophy,...	ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m...	ORPHA:611
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Hammertoe	OMIM:615376
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Poor head control, Respirator...	OMIM:618184
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial...	ORPHA:353327
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness	OMIM:616231
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Nonaka Myopathy	Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle...	OMIM:605820
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Hammertoe	OMIM:610100
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Mitochondrial Myopathy With Diabetes	Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ...	OMIM:500002
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Inability to walk, Optic atrophy, Abnormality of the Achilles tendo...	ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly...	OMIM:604320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Decreased number of peri...	OMIM:600882
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity, Lower limb muscle weakness, Distal lower limb amyotrophy, Th...	ORPHA:352675
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Ankle weakne...	ORPHA:100998
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T...	OMIM:181400
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl...	OMIM:606070
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness	OMIM:608895
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Diaph...	ORPHA:101081
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	ORPHA:101097
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neurop...	ORPHA:101077
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness	ORPHA:101078
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w...	OMIM:118300
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dec...	OMIM:605285
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ...	OMIM:617030
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ...	ORPHA:178145
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista...	ORPHA:178464
Monomelic Amyotrophy	Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness, Abnormality o...	ORPHA:65684
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop...	ORPHA:457205
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p...	OMIM:616209
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir...	OMIM:600794
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Foot ...	OMIM:613641
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Skele...	ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Distal muscle wea...	ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Upper limb muscle weakness, Steppage gait, Gait disturbance, Lower limb musc...	OMIM:616155
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Distal upper limb amyotrophy, Gait disturbance, Abnormal ne...	ORPHA:101075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Bulbar palsy, Facial palsy, Gowers sign, Decreased compound muscle action potential amplitude, Fl...	OMIM:603511
Congenital Myopathy 10A, Severe Variant	Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finge...	OMIM:614399
Zebra Body Myopathy	Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,...	ORPHA:97240
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Thenar ...	OMIM:270685
Multifocal Motor Neuropathy	Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor...	ORPHA:641
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Gait disturbance, Difficulty walking, Lower limb muscle weakness...	ORPHA:101001
Welander Distal Myopathy	Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles	OMIM:604454
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Spli...	OMIM:607831
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive...	ORPHA:178400
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Onion bulb formation, Decreased nerve conduction velocity, Upper limb mu...	OMIM:615284
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing...	ORPHA:2928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ...	OMIM:254110
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn...	OMIM:619477
Charcot-Marie-Tooth Disease Type 4A	Distal muscle weakness, Limited interphalangeal movement, Hand muscle weakness, Decreased nerve c...	ORPHA:99948
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Spli...	ORPHA:99950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal...	OMIM:618848
Inclusion Body Myositis	Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles	OMIM:147421
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity...	OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir...	OMIM:601472
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Axonal degeneration, Distal amyotrophy, Weakness of facial musculature, Fail...	OMIM:618811
Myasthenic Syndrome, Congenital, 12	Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph...	OMIM:610542
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Plantar flexion contr...	OMIM:620011
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit...	ORPHA:319514
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Proximal amyotrophy,...	OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory...	ORPHA:99953
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu...	ORPHA:600
Oculopharyngodistal Myopathy 2	Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople...	OMIM:618940
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re...	ORPHA:266
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ...	OMIM:609283
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas...	OMIM:500009
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Short stature, Acute r...	OMIM:604168
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity...	ORPHA:397744
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox...	ORPHA:329478
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Skeletal muscle atrophy	OMIM:183050
Myopathy, Myofibrillar, 3	Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal...	OMIM:609200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination	OMIM:618279
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco...	OMIM:232700
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy	ORPHA:1188
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination	OMIM:249900
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:619279
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus...	OMIM:609524
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Failure t...	OMIM:245200
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Distal muscle weakness, Decreased distal sensory nerve action potential, Distal amyotrophy, Hamme...	OMIM:618400
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ...	OMIM:160500
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Ataxia, Difficulty walking, Knee flexion contracture	OMIM:616330
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Skeletal muscle atrophy, Poor head control	OMIM:614932
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Limb ataxia, Gait ataxia, Atrophy/Degeneration affecting the bra...	OMIM:619862
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac...	OMIM:162100
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal...	ORPHA:457050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye...	OMIM:607250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Myasthenic Syndrome, Congenital, 15	Fatigable weakness, Multiple joint contractures, Difficulty walking	OMIM:616227
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In...	OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology...	ORPHA:598
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl...	OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra...	OMIM:619733
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc...	OMIM:601846
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Prolonged miniature endplate currents, Type 2 muscle fiber atrophy, Fatiga...	OMIM:603034
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Overweight, Z-...	OMIM:619178
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K...	OMIM:616313
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet...	OMIM:608358
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Muscle weakness, Skeletal muscle hypertrophy	ORPHA:99014
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Prolonged miniature endplate currents, Intrinsic hand muscle atrophy, Fatiga...	OMIM:601462
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Spli...	OMIM:616688
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec...	OMIM:609285
Glycosylphosphatidylinositol Biosynthesis Defect 17	Clinodactyly of the 5th finger, Hypertriglyceridemia, High palate, Clinodactyly of the 5th toe	OMIM:618010
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy...	ORPHA:3115
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes...	OMIM:608099
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc...	OMIM:619042
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s...	OMIM:617760
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Fatiguable weakness of proximal limb muscles, Inability to walk, Abnormality of the seventh crani...	ORPHA:90117
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness...	OMIM:605637
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G...	OMIM:117000
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho...	ORPHA:75234
Muscle Filaminopathy	Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast...	ORPHA:171445
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents	OMIM:616321
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne...	ORPHA:34516
Myopathy, Myofibrillar, 2	Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak...	OMIM:608810
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak...	OMIM:620386
Myasthenic Syndrome, Congenital, 25, Presynaptic	Poor head control, Decreased compound muscle action potential amplitude, Flexion contracture, Myo...	OMIM:618323
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proximal muscle weak...	OMIM:620389
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,...	OMIM:218000
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Axonal loss, Abnor...	ORPHA:85446
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Congenital Myopathy 14	Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex...	OMIM:618414
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Optic atrophy, Dysmetria, Abnormality of masticatory...	ORPHA:98755
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M...	OMIM:605809
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction...	OMIM:615368
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy	ORPHA:98890
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase...	OMIM:613204
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v...	ORPHA:2926
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach...	OMIM:603689
Charcot-Marie-Tooth Disease, Type 4D	Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Proximal muscle...	OMIM:601455
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Congenital Myopathy 3 With Rigid Spine	Poor head control, Failure to thrive, Neck flexor weakness, Facial palsy, Decreased body weight, ...	OMIM:602771
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat...	OMIM:618129
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Ataxia, Dysmetria, Motor axonal neu...	ORPHA:48431
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl...	OMIM:300717
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ...	OMIM:608930
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi...	OMIM:254130
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp...	OMIM:254210
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab...	OMIM:612937
Rhabdomyolysis, Susceptibility To, 1	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle...	OMIM:620235
Muscular Dystrophy, Limb-Girdle, Type 1H	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu...	OMIM:613530
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ...	OMIM:617069
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Acromicric Dysplasia	Short metacarpal, Decreased nerve conduction velocity, Small hand, Abnormal femur morphology, Sho...	ORPHA:969
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Distal amyotrophy, Sensory axonal neuropathy, Abnormal...	ORPHA:139578
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac...	ORPHA:270
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we...	ORPHA:101085
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin...	ORPHA:59135
Myopathy, Distal, 3	Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu...	OMIM:610099
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Muscle weakness, Abnormal cranial nerve ...	OMIM:258470
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ...	OMIM:167320
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, EEG abnormality, Axonal loss, Peripheral demyelination	OMIM:221770
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,...	OMIM:300559
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl...	ORPHA:488650
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Failure to thrive in infancy, External ophthalmoplegia...	OMIM:619026
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac...	OMIM:300696
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic...	OMIM:614321
Congenital Myopathy 2A, Typical, Autosomal Dominant	Bulbar palsy, Neck flexor weakness, Facial palsy, Slender build, Proximal muscle weakness, Respir...	OMIM:161800
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:615703
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers...	OMIM:616228
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Axonal degeneration, Gait ataxia, Abnormal sensory nerve conduction velocity, Gait distur...	ORPHA:88628
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel...	OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s...	OMIM:608807
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia...	ORPHA:101076
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Short stature, Ataxia	ORPHA:1368
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity	ORPHA:2386
Merrf	Myopathy, Ragged-red muscle fibers, Optic atrophy	ORPHA:551
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr...	ORPHA:75840
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination	OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m...	OMIM:253601
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Primary Lateral Sclerosis, Juvenile	Decreased compound muscle action potential amplitude, Spastic gait, Spasticity of facial muscles,...	OMIM:606353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m...	OMIM:617070
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Confusion, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degen...	OMIM:603471
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of large per...	OMIM:162400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ...	OMIM:300718
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity, Autoamputation of digits, Distal muscle weakness, Dist...	OMIM:613640
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Cer...	OMIM:619851
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia...	OMIM:620246
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Skeletal muscle atrophy, Cachexia	ORPHA:1933
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Axonal loss, Peripheral demyelination, Decreased body weight	OMIM:617672
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu...	OMIM:611615
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Distal muscle weakness, Cachexi...	ORPHA:298
Myopathy, Centronuclear, 2	Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:255200
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Congenital Myopathy 24	Scapular winging, Facial palsy, Gowers sign, Talipes equinovarus, Type 1 muscle fiber predominanc...	OMIM:617336
Spinocerebellar Ataxia Type 27	Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia	ORPHA:98764
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,...	OMIM:616924
Myopathy, Centronuclear, 4	Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu...	ORPHA:466768
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrop...	OMIM:612674
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor...	ORPHA:1145
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib...	OMIM:619473
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles...	ORPHA:206559
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, ...	OMIM:618484
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ...	OMIM:620249
Combined Oxidative Phosphorylation Deficiency 6	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe...	OMIM:300816
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Myopathy, Tubular Aggregate, 1	Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination	OMIM:616287
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Peripheral demyelination	OMIM:616733
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased...	OMIM:607855
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Peroxisome Biogenesis Disorder 8B	Failure to thrive, Optic atrophy, Peripheral demyelination, Leukodystrophy	OMIM:614877
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Distal muscle weakness, Proximal mu...	OMIM:601152
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He...	OMIM:278000
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ...	OMIM:612999
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle...	OMIM:618823
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Muscle weakness	OMIM:545000
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci...	OMIM:201300
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	OMIM:610717
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ...	OMIM:620265
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Dysmetria	OMIM:159550
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe...	OMIM:270550
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Muscle we...	OMIM:603472
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Ophthalmoplegia, Optic atrop...	ORPHA:320375
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Cednik Syndrome	Ataxia, Optic atrophy, Short stature, Abnormality of peripheral nerve conduction	ORPHA:66631
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co...	OMIM:256840
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr...	OMIM:620138
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:617066
Neuromuscular Oculoauditory Syndrome	Poor head control, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hyp...	OMIM:618733
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Pro...	ORPHA:98915
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di...	OMIM:620080
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s...	OMIM:617072
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	ORPHA:497764
Posterior Column Ataxia With Retinitis Pigmentosa	Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:609033
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Bulbar pal...	OMIM:164400
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Gastric varix, Reduced serum alpha-1-antitrypsin	OMIM:613490
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi...	ORPHA:478029
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness...	ORPHA:86812
Dpm3-Cdg	Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm...	ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc...	OMIM:613157
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre...	OMIM:606071
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Portal vein thrombosi...	ORPHA:64743
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis	OMIM:613724
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination	ORPHA:71211
Oculopharyngodistal Myopathy 4	Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth...	OMIM:619790
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at...	OMIM:608804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ...	OMIM:253700
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Fatty replacemen...	ORPHA:1320
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ...	OMIM:605355
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Onion bulb formation, Leukodystrophy, CNS hypomyelination	OMIM:610532
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Failure to thrive, Cerebellar atrophy	OMIM:618356
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic...	OMIM:214900
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb...	OMIM:310440
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Sialidosis Type 1	Decreased nerve conduction velocity, Skeletal muscle atrophy, Muscle weakness, EEG abnormality	ORPHA:812
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus...	OMIM:609560
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Cachexia, Generalized muscle weakness, Ragged-red muscle fi...	OMIM:613662
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Autonomic bladder dysfunction, Leukodystrophy, Autonomic erec...	OMIM:169500
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Central Core Disease	Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M...	ORPHA:597
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc...	OMIM:254090
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Poor head control, Decreased nerve conduction velocity, Congenital foot contra...	ORPHA:565624
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia	OMIM:615863
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ...	OMIM:614302
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Poor head control, Cachexia, Decreased nerve cond...	ORPHA:206436
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Joint contracture, Optic atrophy	OMIM:615419
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend...	ORPHA:353
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Decreased nerve conduction velocity, External ophthalmoplegia, Optic atrophy, ...	ORPHA:485421
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp...	ORPHA:240094
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy	OMIM:616811
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal muscle weakness, Sandal gap, Failure to thrive in infancy, Decreased nerve conduction velo...	ORPHA:477817
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness...	OMIM:620285
Myasthenic Syndrome, Congenital, 10	Waddling gait, Proximal amyotrophy, Fatigable weakness, Distal amyotrophy, Weakness of facial mus...	OMIM:254300
Cap Myopathy	Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima...	ORPHA:171881
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi...	ORPHA:486815
Arthrogryposis Multiplex Congenita 6	Neonatal death, Akinesia	OMIM:619334
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ...	ORPHA:139399
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity, Failure to thrive, Cerebral cortical atrophy	OMIM:238970
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness...	ORPHA:90658
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal mu...	ORPHA:456312
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, Flexion contracture,...	OMIM:618186
Hereditary Sensory And Autonomic Neuropathy Type 1	Foot dorsiflexor weakness, Inability to walk, Distal amyotrophy, Steppage gait, Gait imbalance, A...	ORPHA:36386
Abetalipoproteinemia	CNS demyelination, Peripheral demyelination	OMIM:200100
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination	OMIM:205400
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Upper limb m...	ORPHA:206443
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen...	OMIM:609136
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Optic Atrophy 11	Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facial diplegia, Bilateral tal...	OMIM:617302
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in...	OMIM:611705
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog...	ORPHA:169186
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode...	ORPHA:324604
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:250100
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ...	OMIM:608931
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ...	OMIM:602541
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep...	OMIM:619013
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Atrophy/Degenera...	OMIM:616192
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Optic atro...	ORPHA:401768
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Flexion contracture, Optic atrophy, Uns...	ORPHA:35069
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Progressive psychomotor deterioration, Cirrhosis, Cognitive i...	ORPHA:363400
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Temple Syndrome	Hypertriglyceridemia, Small hand, Cleft palate, Short foot, High palate, Hypercholesterolemia, Cl...	OMIM:616222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis	ORPHA:280356
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Spinocerebellar Ataxia 10	Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Gait ataxia, Pro...	OMIM:603516
Parkinson Disease 17	Akinesia	OMIM:614203
Van Den Bosch Syndrome	Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Muscle weakness, Abnormal muscle fiber protein expression	ORPHA:330054
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral myelination, Steppage gait, Abnormal peripheral nerv...	ORPHA:168563
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination, EEG ...	ORPHA:206448
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal muscle w...	ORPHA:254886
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int...	ORPHA:681
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Short statu...	OMIM:615663
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li...	OMIM:616812
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular n...	OMIM:252011
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis	OMIM:177000
Spastic Paraplegia Type 7	Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Lower lim...	ORPHA:99013
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si...	OMIM:617258
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen...	ORPHA:52430
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropa...	ORPHA:909
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy,...	OMIM:278800
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers	ORPHA:101111
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph...	OMIM:613561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Hypoplastic spleen, Anky...	OMIM:602361
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Friedreich Ataxia	Hand muscle atrophy, Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy,...	ORPHA:95
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph...	ORPHA:1187
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Hyperammonemia	ORPHA:664
Spinocerebellar Ataxia 21	Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia	OMIM:607454
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Increased hepatocellular lipid droplet...	ORPHA:71
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Short stature	ORPHA:93476
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Failure to thrive, Demyelinating peripheral neuropathy	OMIM:616652
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Failure to thrive, Skele...	OMIM:619518
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of...	ORPHA:596
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia	OMIM:618249
Smith-Magenis Syndrome	Hypertriglyceridemia, Velopharyngeal insufficiency, Short palm, Hypercholesterolemia, Brachydactyly	OMIM:182290
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers	OMIM:619024
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Perry Syndrome	Short stepped shuffling gait, Akinesia, Weight loss	OMIM:168605
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at...	OMIM:614575
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia	ORPHA:480
Corticobasal Syndrome	Somatic sensory dysfunction, Gait disturbance, Akinesia	ORPHA:454887
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal...	OMIM:258450
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hyperlipidemia, Irritability, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatoc...	ORPHA:369
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Clinodactyly, Inc...	ORPHA:178148
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Proximal muscle weakness	OMIM:618416
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga...	OMIM:248800
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Attention deficit hyperactivity disorder, Abnormal stomach morphology	ORPHA:281090
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ...	OMIM:256850
Poliomyelitis	Skeletal muscle atrophy, Bulbar palsy, Abnormal motor nerve conduction velocity, Hypoplasia of th...	ORPHA:2912
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hi...	ORPHA:2457
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph...	ORPHA:169189
Smith-Magenis Syndrome	Toe syndactyly, Hypertriglyceridemia, Cleft palate, Hand polydactyly, Gastroesophageal reflux, At...	ORPHA:819
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro...	ORPHA:2538
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Failure to thrive, Distal muscle weakness, Optic atrop...	ORPHA:99949
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Pyloric stenosis, Clinodactyly, Radial deviation of finger	OMIM:188025
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Peho Syndrome	Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia	OMIM:260565
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Finger swell...	OMIM:617591
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Neck flexor weakn...	ORPHA:300605
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Muscle weakness	ORPHA:309256
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar...	ORPHA:234
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy	OMIM:610651
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Rocker bottom foot, Dysphagia, Adducted thumb	ORPHA:89844
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Obesity	OMIM:604360
Lysosomal Acid Lipase Deficiency	Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	ORPHA:275761
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles...	ORPHA:206569
Mitochondrial Dna Depletion Syndrome 11	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy...	OMIM:615084
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl...	ORPHA:98863
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Reni Syndrome	Mental deterioration, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Macroglossia, Cirrhosis, Hypercholesterolemia, Hepatic steato...	ORPHA:528
Oculopharyngodistal Myopathy 1	Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph...	OMIM:164310
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric s...	OMIM:613327
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl...	ORPHA:98853
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Muscle weakness	ORPHA:309263
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro...	OMIM:271245
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,...	OMIM:277460
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Muscle weakness, Foot dorsiflexor weakness	OMIM:214500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Limb...	OMIM:606002
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Emotional lability, Hypertriglyceridemia	ORPHA:179494
Congenital Myopathy 12	Small for gestational age, Akinesia	OMIM:612540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia, Cognitive impairment	ORPHA:364
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Ophthalmoparesis, Episodic flaccid wea...	ORPHA:79102
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Multiple Sulfatase Deficiency	CNS demyelination, Peripheral demyelination	OMIM:272200
Kufor-Rakeb Syndrome	Akinesia, Ataxia, Gait disturbance, Distal sensory impairment	OMIM:606693
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Failure to thrive, Delayed myelination	OMIM:231670
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial palsy, Paucity of ante...	ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Optic atrophy, Myopa...	OMIM:616239
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait	ORPHA:247234
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy...	OMIM:619574
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Small for gestational age, Akinesia	OMIM:619147
D-Bifunctional Protein Deficiency	Decreased muscle mass, Decreased nerve conduction velocity, Split hand, Hammertoe, Talipes equino...	OMIM:261515
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ...	ORPHA:99956
Mirage Syndrome	Hyponatremia, Rocker bottom foot, Radial club hand, Esophageal stricture, Thrombocytopenia, Hyper...	OMIM:617053
Fanconi-Bickel Syndrome	Hepatomegaly, Bowing of the long bones, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic ...	ORPHA:2088
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic atrop...	ORPHA:254930
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Congenital Myasthenic Syndrome	EEG with polyspike wave complexes, Bulbar palsy, Poor head control, Proximal muscle weakness, Int...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	EEG with polyspike wave complexes, Bulbar palsy, Poor head control, Proximal muscle weakness, Int...	ORPHA:98914
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor...	OMIM:157640
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Muscle weakness, Orthostatic hypotension due ...	ORPHA:309271
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Foot joint contracture, Ataxia, Postnatal growth retardation...	ORPHA:90321
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	OMIM:615381
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Cockayne Syndrome B	Failure to thrive, Small for gestational age, Abnormal peripheral myelination, Abnormal auditory ...	OMIM:133540
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Bulbar palsy, Facial palsy, Ophthalmoplegia, EEG abnor...	ORPHA:79138
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Villous atrophy, Hypertriglycerid...	OMIM:619573
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot	OMIM:133705
Manganese Poisoning	Gait disturbance, Akinesia	ORPHA:306682
Neurodegeneration With Brain Iron Accumulation 5	Akinesia	OMIM:300894
H Syndrome	Hallux valgus, Hypertriglyceridemia, Malabsorption, Microcytic anemia, Hepatosplenomegaly, Lympha...	ORPHA:168569
Friedreich Ataxia	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec...	OMIM:229300
Xp21 Deletion Syndrome	Finger clinodactyly, Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase concen...	ORPHA:261476
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter	ORPHA:79282
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly...	ORPHA:381
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Enterocolitis, Hepatocel...	ORPHA:79259
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Metaphyseal widening, Cone-sha...	OMIM:617253
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Ophthalmoparesis, Clinod...	ORPHA:3068
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we...	OMIM:607459
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Glycogen Storage Disease Iii	Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration	OMIM:232400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Irritability, Hyperlipidemia	ORPHA:2089
Classic Progressive Supranuclear Palsy Syndrome	Falls, Gait imbalance, Akinesia	ORPHA:240071
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac...	OMIM:614262
Microtriplication 11Q24.1	Metatarsus adductus, Hyperlipidemia, Small hand, Cleft palate, Genu valgum, Short foot, Clinodact...	ORPHA:289522
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho...	ORPHA:2357
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Delayed peripheral myelination	ORPHA:464282
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus ...	ORPHA:536532
Cockayne Syndrome A	Failure to thrive, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decrease...	OMIM:216400
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia	OMIM:614863
Cockayne Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Neurogenic bladder, Severe short stature, Optic disc...	ORPHA:191
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno...	ORPHA:280365
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Overweight, Delayed myelination, Neurofibroma, Multifocal epileptiform discharges, Obesity, Hypsa...	OMIM:619475
Molybdenum Cofactor Deficiency, Complementation Group B	Axonal loss, Peripheral demyelination	OMIM:252160
Aceruloplasminemia	Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia	ORPHA:48818
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Tapered finger	OMIM:617219
Gaucher Disease, Perinatal Lethal	Neonatal death, Akinesia, Decreased body weight	OMIM:608013
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Molybdenum Cofactor Deficiency, Complementation Group A	Axonal loss, Peripheral demyelination	OMIM:252150
Neutral Lipid Storage Myopathy	Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G...	ORPHA:98908
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepatitis, Hypertriglycerid...	OMIM:203800
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:66628
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit...	ORPHA:90291
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Peripheral demyelination	ORPHA:171629
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Protein-losing e...	OMIM:618183
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperp...	ORPHA:567983
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Neurogenic bladder, Optic disc pallor, Mild postnatal growth retardation...	ORPHA:90324
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Mitochondrial Dna-Associated Leigh Syndrome	Failure to thrive, Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demye...	ORPHA:255210
Nephrotic Syndrome, Type 1	Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ...	OMIM:620278
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Hurler Syndrome	Short stature, Camptodactyly of finger, Growth delay, Macroglossia, Abnormal nerve conduction vel...	ORPHA:93473
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Akinesia, Weight loss	ORPHA:411602
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Postencephalitic Parkinsonism	Paresthesia, Akinesia	ORPHA:97349
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal granulocyte morphology, Abno...	ORPHA:98907
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con...	ORPHA:79086
Danon Disease	Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG...	OMIM:300257
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi...	ORPHA:512
Multiple Sulfatase Deficiency	Optic atrophy, Short stature, Abnormality of peripheral nerve conduction	ORPHA:585
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness	ORPHA:228302
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating...	OMIM:615980
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Upper limb undergrowth, Slender long bo...	ORPHA:369837
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy	OMIM:609242
Wilson Disease	Decreased nerve conduction velocity, Limb muscle weakness	OMIM:277900
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diamet...	OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Decreased HDL cholesterol concentration, Hepatomegaly, Hypoplastic scapulae, Hyper...	OMIM:256040
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Mediast...	ORPHA:379
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t...	OMIM:161700
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ...	ORPHA:258
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Mucopolysaccharidosis Type 2	Papilledema, Decreased nerve conduction velocity, Optic atrophy, Macroglossia, Contractures of th...	ORPHA:580
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Polymyositis	Weight loss, Proximal muscle weakness, Abnormal muscle fiber morphology	ORPHA:732
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Exocrine pancreatic insufficiency, Abnormal rib mor...	OMIM:118450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Depre...	ORPHA:189427
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Abnormal femoral head morphology, Thrombocytopenia, Hyperlipidemi...	ORPHA:1830
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
East Syndrome	Peripheral axonal neuropathy, Peripheral hypomyelination	ORPHA:199343
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Congenital Disorder Of Deglycosylation 1	Facial hypotonia, Small hand, Intrinsic hand muscle atrophy, Short foot, Decreased body weight, D...	OMIM:615273
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat...	OMIM:256800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	CNS demyelination, Failure to thrive, Small for gestational age, Peripheral demyelination	OMIM:220111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein	OMIM:226730
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Hyperlipidemia, Cleft palate, Toe clinodactyly, Clinod...	ORPHA:254346
Methanol Poisoning	Hyperlipidemia, Confusion	ORPHA:31825
Craniorachischisis	Bifid sternum, Anal atresia	ORPHA:63260
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ci...	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Cirrhosis, Hepatic steatosis	OMIM:608594
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Xanthelasma, Inflam...	OMIM:232220
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Down-sloping shoulders, Coxa valga, Hyperlipidemia, High palate, Osteol...	OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Supranuclear Palsy, Progressive, 2	Falls, Gait imbalance, Akinesia	OMIM:609454
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s...	ORPHA:3138
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypertriglyceridemia, Hypoplastic ilia, Long fingers, Thin ...	OMIM:264090
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Muir-Torre Syndrome	Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Dpagt1-Cdg	Inability to walk, Failure to thrive, Ataxia, Akinesia	ORPHA:86309
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, High palate, Osteolytic defects of the distal phalanges of the hand, Short clavic...	OMIM:608612
Arthrogryposis Multiplex Congenita 5	Akinesia	OMIM:618947
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Supranuclear Palsy, Progressive, 1	Falls, Gait imbalance, Akinesia	OMIM:601104
Bohring-Opitz Syndrome	Failure to thrive, Delayed peripheral myelination	OMIM:605039
Neurodegeneration With Brain Iron Accumulation 1	Choreoathetosis, Akinesia, Ataxia, Gait disturbance	OMIM:234200
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon...	ORPHA:285
Atypical Werner Syndrome	Hypertriglyceridemia, Rocker bottom foot, Osteolytic defects of the phalanges of the hand, Finger...	ORPHA:79474
Familial Multiple Lipomatosis	Bowing of the long bones, Functional intestinal obstruction, Hyperlipidemia	ORPHA:199276
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension	OMIM:223900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy	OMIM:612780
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypertriglyceridemia, Camptodactyly of finger, Confusion, H...	ORPHA:3455
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Caudate atrophy, Peripheral axonal neurop...	ORPHA:2388
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Failure to thrive	OMIM:256810
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Impaired proprioception, Weight loss, Choreoathetosis, Gai...	ORPHA:3385
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Osteolytic defects of the distal phala...	ORPHA:90154
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Delayed peripheral myelination	ORPHA:364577
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis, Dysphagia	OMIM:606721
Glycogen Storage Disease Ia	Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Pancreatitis	OMIM:232200
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflammation...	OMIM:232240
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, High palate, Osteolytic defects of the distal phalanges of the hand, Acroosteolys...	ORPHA:90153
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen...	ORPHA:439232
Fabry Disease	Malabsorption, Hyperlipidemia, Abnormal femur morphology, Depression, Cognitive impairment, Achal...	ORPHA:324
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Growth delay, Difficulty walking, Abnormali...	ORPHA:642
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Alström Syndrome	Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomegaly, Short toe, Hyperlipidemia,...	ORPHA:64
Friedreich Ataxia 2	Ataxia, Abnormality of peripheral nerve conduction	OMIM:601992
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Celiac disease, Hyperlipidemia, Gastrointestinal dysmotility, Hyperkalemia, Depress...	ORPHA:293987
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Williams Syndrome	Elevated circulating creatine kinase concentration, Rectal prolapse, Gastroesophageal reflux, Cli...	ORPHA:904
Aromatase Deficiency	Delayed epiphyseal ossification, Hepatic steatosis, Hyperlipidemia, Genu valgum	ORPHA:91
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Congenital pyloric atresia	ORPHA:158684
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665

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 Gars1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Gars1.

No publications found that use IMPC mice or data for Gars1.

Order Mouse and ES Cells

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
Gars1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gars1^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Gars1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Gars1 MGI:2449057

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

Eye Morphology

X-ray

Histopathology

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Histopathology

Human diseases caused by Gars1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data