Gene Summary

Name:
glycyl-tRNA synthetase
Synonyms:
Sgrp23,  GENA202,  Gena201

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Garsem1(IMPC)Tcp HOM   E9.5 0.00
abnormal eye morphology Garsem1(IMPC)Tcp HET Early adult 0.00
small spleen Garsem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Garsem1(IMPC)Tcp HET Early adult 0.00
increased circulating triglyceride level Garsem1(IMPC)Tcp HET Early adult 9.14×10-05
decreased exploration in new environment Garsem1(IMPC)Tcp HET Early adult 8.33×10-06
preweaning lethality, complete penetrance Garsem1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Garsem1(IMPC)Tcp HET Early adult 0.00
abnormal stomach morphology Garsem1(IMPC)Tcp HET Early adult 0.00

Download data as:  TSV  XLS

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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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

117 Images

Eye Morphology

Images Ophthalmoscopy

96 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

19 Images

Eye Morphology

Images Slit Lamp

3 Images

Gross Pathology and Tissue Collection

Images

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

6 Images

Human diseases caused by Gars mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Proximal amyotrophy, Motor axonal neuropathy, Axonal d... ORPHA:98856
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:607678
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy OMIM:614751
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:302801
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy OMIM:605589
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Upper limb amyotrophy, Decreased number of large peripheral myelina... ORPHA:90103
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Proximal muscle weakness, Triceps weakness, Weakness o... OMIM:615575
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Abnormal cranial nerve morpholog... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal atrophy, Limb ... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Distal muscle weakness, Limb muscle weakness OMIM:614228
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Skeletal muscle atrophy,... OMIM:613287
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Distal arthrogryposis, Ankle flexion contracture, Onio... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Onion bulb formation, Periph... OMIM:605588
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Thenar muscle we... ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Abnormal auditory evoked pot... OMIM:601382
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Proximal muscle weakness, Decreased compound muscle action potential amplitu... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy
Fatiguable weakness of proximal limb muscles, Hand muscle weakness, Motor conduction block, Perip... ORPHA:2932
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Decreased amp... OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... OMIM:618138
Neuronopathy, Distal Hereditary Motor, Type Vc
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Thenar muscle... OMIM:619112
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Proximal muscle weakness, Skeletal muscle atrophy, Peripheral demyelination, Decreased nerve cond... ORPHA:99944
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal amyotrophy, Dec... OMIM:606482
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... OMIM:602433
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Poor head control, Skeletal muscle atrophy, Facial dip... OMIM:618184
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy, Abnormal autonomic nervous system physiology DECIPHER:59
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... OMIM:619519
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Limb muscle weakness, Di... OMIM:600361
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Di... OMIM:610100
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:609311
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Spinal muscular atrophy, Foot dorsi... OMIM:605726
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Proximal muscle weakness, Peripheral axonal neuropathy, Abnormal motor evoked potentials, EMG: my... ORPHA:99939
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Abnormality of so... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Optic atrophy, Onion bulb formation, Peripheral axonal... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot dorsifle... OMIM:302802
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... OMIM:614895
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... ORPHA:280234
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Proximal muscle weakness, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal mu... OMIM:618655
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... ORPHA:611
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration/regeneration, P... OMIM:600882
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:180800
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal muscle weakness, Decreased nerve conduction velocity, Distal... OMIM:608895
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Favorable response of weakness to acetylcholine esterase inhi... ORPHA:353327
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Skeletal muscle atrophy, Skeletal muscle... ORPHA:101082
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal amyotrophy, Chronic axonal neuropathy, Foot dor... OMIM:606595
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Axonal degeneration/regeneration... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Onion bulb formation, Limb muscle weakness, Hypertroph... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Proximal muscle weakness, Axonal regeneration, Distal ... OMIM:607831
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Hand muscle w... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Facial palsy, Nemaline bodies, Flexion contracture, Di... OMIM:607684
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Diaphragmatic weakness, Decre... ORPHA:101081
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Distal lower limb amyotrophy, Inability to walk, Abnormality of the Achilles tendo... ORPHA:431329
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... ORPHA:399058
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopa... OMIM:500002
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Muscle weakness, Distal upper limb amyotrophy, Degene... ORPHA:65684
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Limb muscle weakness, Failure to thriv... OMIM:604320
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Abnormality of the foot musculature, Abnormal motor nerve conduction veloci... ORPHA:100998
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Lower limb muscle weakness, Decreased nerve conduction velocity, Th... ORPHA:352675
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Abnormal peripheral nervou... OMIM:609524
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Limb muscle weakness, Distal amyotrophy, Foot dorsifle... OMIM:118300
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Foot dorsiflexor weakness, Axonal degeneration OMIM:616155
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ataxia, Abnormal ne... ORPHA:101075
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:101078
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... ORPHA:97240
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... OMIM:254110
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... ORPHA:178464
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Multifocal Motor Neuropathy
Motor conduction block, Progressive distal muscle weakness, Limb muscle weakness, Progressive mus... ORPHA:641
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Skeletal muscle atrophy, Joint contractures involving the joints of the feet, Moto... ORPHA:457205
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Axonal degeneration, Decreased number of peripheral myelin... OMIM:604484
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Peripheral axonal neuropathy, ... ORPHA:435387
Inclusion Body Myositis
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Abnormal auditory evoked potentials, Axonal loss, Decreased nerve conductio... OMIM:601455
Mitochondrial Dna Depletion Syndrome 18
Weakness of facial musculature, Failure to thrive, Axonal degeneration, Distal amyotrophy, Foot d... OMIM:618811
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalit... ORPHA:397744
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Motor conduction block, Weakness of facial musculature, Decreased number of... ORPHA:99948
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Proximal muscle weakness, Peripheral axonal neuropathy... ORPHA:99953
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, First dorsal interossei muscle wea... OMIM:600794
Myopathy, Distal, 1
Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Facial palsy, Rimmed... OMIM:160500
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Muscle fiber necrosis, Calf mu... OMIM:618848
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Proximal muscle weakness, Upper limb amyotrophy, Decre... ORPHA:99950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... OMIM:609283
Autosomal Recessive Spastic Paraplegia Type 21
Gait disturbance, Difficulty walking, Abnormality of peripheral nerve conduction, Frontotemporal ... ORPHA:101001
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... OMIM:603511
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Failure to thrive, Atrophy/Degeneration affecting the brainstem, Abnormal mot... OMIM:618404
Motor Neuropathy, Peripheral, With Dysautonomia
Skeletal muscle atrophy, Orthostatic hypotension, Progressive muscle weakness, Peripheral demyeli... OMIM:252320
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... OMIM:609200
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Ophthalmoplegia, Limb muscle weakness OMIM:615284
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Shoulder girdle ... OMIM:606070
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Onion bulb formation, Hypertrophic nerve changes, Dist... OMIM:145900
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,... OMIM:618400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... ORPHA:266
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Limb muscle weakness, Facial palsy, EMG: myopathic abn... OMIM:601170
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Aggressive behavior, Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly... OMIM:618010
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Respiratory insuffic... ORPHA:600
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Myopathy, Myofibrillar, 2
Autophagic vacuoles, Respiratory insufficiency due to muscle weakness, Late-onset proximal muscle... OMIM:608810
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Peripheral axonal neuropathy, Axonal degeneration, Knee flexion contractur... OMIM:615490
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, First dorsal interossei muscle wea... OMIM:601472
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Short stature, Periphe... OMIM:604168
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneration, Axonal degen... OMIM:615157
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... ORPHA:457050
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Onion bulb formation, Distal amyotrophy, Decreased num... OMIM:604563
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Hip contracture, Failu... ORPHA:319514
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Difficulty walking, Fatigable weakness OMIM:616227
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Krabbe Disease
Optic atrophy, CNS demyelination, Failure to thrive, Peripheral demyelination, Decreased nerve co... OMIM:245200
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased siz... OMIM:603034
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... OMIM:616852
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... OMIM:615424
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Muscle weakness, Truncal obesity, Decreased nerve conduction velocity, Camptodactyly of finger ORPHA:2928
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Decreased nerve conduction velocity, Cerebral cortical atrophy ORPHA:1188
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac... OMIM:162100
Combined Oxidative Phosphorylation Deficiency 13
Poor head control, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:614932
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Nemaline Myopathy 1
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... OMIM:609284
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Vacuolar Neuromyopathy
Neck flexor weakness, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centr... OMIM:601846
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Muscle weakness, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy ORPHA:99014
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia OMIM:306000
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Nemaline Myopathy 4
Gowers sign, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture,... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Abnormal peripheral action potential amplitude, Ina... ORPHA:90117
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Myopathy, Centronuclear, 1
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... OMIM:160150
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... ORPHA:34516
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... OMIM:605637
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... ORPHA:2593
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... ORPHA:3115
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Neck flexor weakness, Limb muscle weakness OMIM:609273
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atrophy, Muscular dystroph... ORPHA:2926
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Myofibrillar Myopathy 11
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... OMIM:619178
Myopathy, X-Linked, With Postural Muscle Atrophy
Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness, Flexion contracture, Scapula... OMIM:300696
Nemaline Myopathy 2
Slender build, Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudo... OMIM:256030
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Decreased size of nerve terminals, Type 2 muscle fiber atr... OMIM:601462
Spinocerebellar Ataxia Type 1
Optic atrophy, Gait disturbance, Dystonia, Abnormality of somatosensory evoked potentials, Skelet... ORPHA:98755
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Decreased size... ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Scapular winging, Abdominal wall muscle ... OMIM:618129
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... OMIM:608358
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Muscle weakness, Increased variability in muscle fiber diameter, Distal amyotrop... OMIM:619042
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu... OMIM:254130
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... OMIM:603689
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridem... ORPHA:75234
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of large per... OMIM:162400
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Muscle weakness, Increased endomysial connective t... OMIM:617072
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Increased variability... OMIM:300717
Wild Type Abeta2M Amyloidosis
Axonal loss, Macroglossia, Decreased nerve conduction velocity, Decreased amplitude of sensory ac... ORPHA:85446
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Axonal loss, Orthostatic hypotension, Decreased nerve conduction velocit... OMIM:118301
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Optic atrophy, Peripheral demyelination OMIM:618237
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Decreased nerve conduction velocity, Flexion contracture, Centrally nu... OMIM:615368
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Calf muscle hypertrophy, Dist... OMIM:617760
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Fatigable weakness, Generalized hypo... OMIM:605809
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle weakness, Limb-girdle mu... OMIM:612937
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... ORPHA:399086
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Dysmetria, Motor axonal neuropathy, Acute rhabdom... ORPHA:48431
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmop... ORPHA:270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external... OMIM:617070
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Fatigable weakness, Generalized ... OMIM:254210
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Distal amyotrophy, Abnormal... ORPHA:139578
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Myopathy, Minicore myopathy, Failure to thrive, Respiratory insufficien... ORPHA:424107
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Ca... OMIM:613530
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Calf muscle hypoplasi... ORPHA:488650
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Peripheral axonal degeneration, Decreased number of peripheral myelinate... OMIM:608720
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... OMIM:616924
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Facia... OMIM:608930
Merrf
Optic atrophy, Myopathy, Ragged-red muscle fibers ORPHA:551
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Increased circulating... OMIM:300635
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Decreased body weight, Peripheral demyelination, Axonal loss OMIM:617672
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability... OMIM:253601
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Muscle weakness, Abnormal mitochondria in muscle tissue, Abnormal cranial nerve morphology, Ophth... OMIM:258470
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Weakness of facial musculature, Absent brainstem auditor... ORPHA:101085
Nemaline Myopathy 3
Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Respiratory insufficiency d... OMIM:161800
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Decreased muscle mass, Cerebellar atrop... OMIM:615663
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Ragged-red muscle fib... ORPHA:298
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... ORPHA:101097
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Amyotrop... OMIM:167320
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Type 1 fibers relativel... OMIM:300580
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Facial palsy, Fatigable weakness, Waddling gait, Distal amyotrophy OMIM:254300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss, EEG abnormality, Abnormal upper motor neuron morphology OMIM:221770
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hepatomegaly, Hypertriglyceridemia OMIM:615924
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... OMIM:255200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Waddling gait, Facial palsy, Fatigable weakness OMIM:610542
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, External ophthalmoplegia... OMIM:619026
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic neuropathy, Hand muscle weakness, Optic disc pal... ORPHA:101076
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... OMIM:613204
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Myopathy, Congenital, With Fiber-Type Disproportion
Proximal muscle weakness, Limb joint contracture, Failure to thrive, Respiratory insufficiency du... OMIM:255310
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait disturbance, Axonal degeneration, Abnormality of peripheral nerves, Ataxia, Abnormal sensory... ORPHA:88628
Myasthenic Syndrome, Congenital, 14
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Flexion contracture, Scapular winging,... OMIM:616228
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Poor head control, Peripheral axonal neuropathy, Type 2 muscle fiber a... OMIM:617519
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Gowers sign, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Respira... OMIM:608931
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Proximal muscle weakness, Optic atrophy, Optic disc pa... OMIM:601152
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Sk... OMIM:218000
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... ORPHA:171439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... OMIM:613954
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cerebellar atrophy, Achilles tendon contracture, Decreased nerve conduction veloci... OMIM:612674
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... ORPHA:663
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Distal lower limb muscle weakness, Distal upper limb m... OMIM:613640
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... ORPHA:98911
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, Neck flexor weakness, Respiratory insufficiency due to ... ORPHA:171442
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity ORPHA:2386
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1933
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Cerebellar atrophy, Decreased nerve conduction velocity OMIM:618356
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... OMIM:614373
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Small for gestational age OMIM:616733
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Decreas... OMIM:270550
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Congenital muscular dystrophy, Muscle weakness,... OMIM:607855
Bethlem Myopathy 2
Proximal muscle weakness, Myopathy, Muscle weakness, Increased variability in muscle fiber diamet... OMIM:616471
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Joint contracture of the hand, Atrophy of the spinal cord, Proximal musc... ORPHA:466768
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... OMIM:609560
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Salih Myopathy
Myopathy, Facial palsy, Generalized muscle weakness, Calf muscle hypertrophy, Flexion contracture... OMIM:611705
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Optic neuropathy, Skeletal muscle atrophy, Decreased sensory... ORPHA:320375
Neuromuscular Oculoauditory Syndrome
Poor head control, EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contract... OMIM:618733
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Skel... OMIM:300816
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Myopathy, Ragged-red muscle fibers OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Limb-girdle muscular dyst... OMIM:616052
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Cerebral hypomyelination, Facial palsy,... OMIM:608804
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... OMIM:255320
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co... OMIM:256840
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia, Short stature ORPHA:66631
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Failure to... OMIM:602771
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Peripheral demyelination, Absent brainstem auditory... OMIM:609136
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia OMIM:245900
Dpm3-Cdg
Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Muscle weakness, Calf muscle ... ORPHA:263494
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Muscle weakness, Decreased sensory nerve conduction ve... OMIM:603472
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Diaphragmatic weakness, Generalized amyotrophy, EM... ORPHA:75840
Idiopathic Camptocormia
Dystonia, Myositis, Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Abnormal synapti... ORPHA:1320
Myopathy, Congenital Proximal, With Minicore Lesions
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... OMIM:618823
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Ataxia, Unsteady gait OMIM:159550
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Temple Syndrome
High palate, Cleft palate, Small hand, Bifid uvula, Hypercholesterolemia, Short foot, Hypertrigly... OMIM:616222
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Frontal... ORPHA:206559
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hepatomegaly, Hypertriglyc... OMIM:610717
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Proximal muscle weakness, Optic atrophy, Peripheral axonal... ORPHA:401768
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Optic atrophy, Optic disc pa... OMIM:164400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... OMIM:201300
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steato... OMIM:278000
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, De... OMIM:256600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... ORPHA:158057
Synaptic Congenital Myasthenic Syndromes
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... ORPHA:98915
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Onion bulb formation, Lower limb muscle weakness, Lowe... OMIM:610532
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Be... ORPHA:437572
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... OMIM:160565
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Left v... ORPHA:86812
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Skeletal muscle atrophy, Decreased sensory nerve conduction velocity, Peripheral d... OMIM:609033
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Progressive cerebellar ataxia... OMIM:603516
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Peripheral demyelination, CNS demyelination OMIM:220111
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Muscle weakne... OMIM:615422
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... ORPHA:353
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Gowers sign, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Progre... OMIM:181405
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Global brain atrophy, Diffuse cerebellar atrophy, Neurodegeneration, Axonal deg... ORPHA:478029
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... OMIM:214900
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Cognitive impairment, Anemia, Hyperbiliru... ORPHA:64743
Congenital Multicore Myopathy With External Ophthalmoplegia
Proximal muscle weakness, Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal... ORPHA:98905
Infantile Neuroaxonal Dystrophy
Optic atrophy, Diffuse axonal swelling, Peripheral axonal neuropathy, Gait disturbance, Dystonia,... ORPHA:35069
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex ... OMIM:618484
Sialidosis Type 1
Muscle weakness, EEG abnormality, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:812
Familial Chylomicronemia Syndrome
Dementia, Hyperlipidemia, Memory impairment, Recurrent pancreatitis, Hepatic steatosis, Perianal ... ORPHA:444490
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Steppage gait, Motor axonal neuropathy, Abnormality of the autonomic nervous syst... ORPHA:36386
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Protein-losing enteropathy OMIM:615863
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Ullrich Congenital Muscular Dystrophy 1
Proximal muscle weakness, Reduced muscle collagen VI, Torticollis, Failure to thrive, Respiratory... OMIM:254090
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy OMIM:615419
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Oculomotor nerve palsy, Diaphragmatic weakness, Decreased distal sen... OMIM:606071
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Yuan-Harel-Lupski Syndrome
Failure to thrive, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Attention deficit hype... ORPHA:206443
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... ORPHA:681
Charcot-Marie-Tooth Disease Type 1E
Peroneal muscle atrophy, Peroneal muscle weakness, Gait disturbance, Hand muscle weakness, Gait i... ORPHA:90658
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... ORPHA:171881
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Proximal muscle weakness, Optic atrophy, Ragged-red muscle fibers, Progressive external ophthalmo... OMIM:258450
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... ORPHA:486815
Trigeminal Neuralgia
Peripheral demyelination, Cranial nerve compression, CNS demyelination ORPHA:221091
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degen... OMIM:616811
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Respiratory insuf... ORPHA:597
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Limb hypertonia, Intrauterine growth retardation, Atrophy/Degeneration affecti... ORPHA:565624
Tangier Disease
Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy OMIM:205400
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Symmetric peripheral demyelination, Leukody... OMIM:169500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Proximal muscle weakness, Abnormal motor neuron morphology, Cranial nerve compression, Generalize... ORPHA:52430
Infantile Krabbe Disease
Poor head control, Optic atrophy, Cachexia, Failure to thrive, Shoulder girdle muscle weakness, D... ORPHA:206436
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intram... OMIM:252011
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Optic atrophy... ORPHA:254886
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Muscle weakness... ORPHA:254864
Classic Multiminicore Myopathy
Poor head control, Increased muscle lipid content, Weakness of facial musculature, Right ventricu... ORPHA:324604
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Adrenomyeloneuropathy
Peripheral axonal degeneration, Abnormality of central somatosensory evoked potentials, Atrophy/D... ORPHA:139399
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nuc... OMIM:255160
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, External ophthalmoplegia, Decreased nerve conduction velocity, ... ORPHA:485421
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Failure to thrive in infancy, Decreased nerve conduction velocity, Distal amyotrophy, Decreased n... ORPHA:477817
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, H... OMIM:619013
Autosomal Recessive Centronuclear Myopathy
Gowers sign, Hip contracture, Facial diplegia, Progressive muscle weakness, Generalized amyotroph... ORPHA:169186
Adult Krabbe Disease
Peripheral demyelination, EEG abnormality, CNS demyelination, Prolonged brainstem auditory evoked... ORPHA:206448
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased nerve conduction velocity, Cerebral cortical atrophy OMIM:238970
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hepatomegaly, Cognitive impairment, Cirrhosis, Hepatic ste... ORPHA:363400
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Dystonia, Gait imbalance, Dysmetria, Ce... ORPHA:95
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Respiratory insufficiency due to ... OMIM:617066
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Skeletal muscle atrophy, Abnormality of peripheral nerves, Abnor... ORPHA:168563
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers OMIM:616794
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... ORPHA:158061
Smith-Magenis Syndrome
Self-mutilation, Velopharyngeal insufficiency, Hypercholesterolemia, Hypertriglyceridemia, Short ... OMIM:182290
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Decreased motor nerve conduction velocity, Failure... ORPHA:456312
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Short stature ORPHA:93476
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Gowers sign, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle f... OMIM:253700
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... OMIM:617258
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked pot... ORPHA:1187
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Progressive muscle weakness, Rimmed vacuoles, Skeletal muscle autophagosome ac... OMIM:619518
Spastic Paraplegia Type 7
Optic atrophy, Optic disc pallor, Ragged-red muscle fibers, Upper limb muscle weakness, Lower lim... ORPHA:99013
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hyperthreonin... ORPHA:247598
Typical Nemaline Myopathy
Fatiguable weakness of proximal limb muscles, Myopathy, Neck flexor weakness, Facial diplegia, Fa... ORPHA:171436
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Peripheral axonal neuropathy, External ophthalmoplegia, ... ORPHA:169189
Gracile Bone Dysplasia
Thin ribs, Asplenia, Ankyloglossia, Brachydactyly, Slender long bone, Hypocalcemia, Flared metaph... OMIM:602361
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Skeletal muscle atrophy, Axonal loss, Arthrogryposis multiplex cong... OMIM:616867
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... ORPHA:596
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Esophageal varix, Hepatocellular carcinoma, Hepatic fibrosis, Elev... ORPHA:370
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Poliomyelitis
Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Abnormal motor nerve conduction vel... ORPHA:2912
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Incr... ORPHA:540
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:480
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Muscle fiber atrophy, Muscular dystrophy, Limb-girdle muscula... ORPHA:369840
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morpholog... ORPHA:2494
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve