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Gene: Gmppa MGI:1916330

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Gene Summary

Name:
GDP-mannose pyrophosphorylase A
Synonyms:
1810012N01Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
corneal opacity Gmppaem1(IMPC)Tcp HOM Early adult 3.04×10-05
increased blood urea nitrogen level Gmppaem1(IMPC)Tcp HOM Early adult 7.29×10-05
enlarged lymph nodes Gmppaem1(IMPC)Tcp HOM Early adult 0.00
impaired cued conditioning behavior Gmppaem1(IMPC)Tcp HOM   Early adult 7.03×10-07
increased vertical activity Gmppaem1(IMPC)Tcp HOM Early adult 1.30×10-07
hyperactivity Gmppaem1(IMPC)Tcp HOM   Early adult 4.40×10-09
impaired contextual conditioning behavior Gmppaem1(IMPC)Tcp HOM Early adult 3.61×10-08
decreased prepulse inhibition Gmppaem1(IMPC)Tcp HOM   Early adult 5.58×10-05

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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

93 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

75 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Gmppa 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 Gmppa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triple A Syndrome
Abnormality of the calf musculature, Optic atrophy, Abnormality of the hypothenar eminence ORPHA:869
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Ataxia, Dysphagia OMIM:615510

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
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
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
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Gowers sign, Proximal muscle weakness, Z-... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... OMIM:609200
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... OMIM:605355
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... OMIM:605726
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle w... OMIM:608627
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hand muscle weakness, Upper li... OMIM:608323
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, P... OMIM:615575
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies OMIM:609273
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:302801
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle weakness, The... OMIM:614751
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:607678
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... OMIM:620285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Frontotemporal dem... OMIM:615422
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... OMIM:158810
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Mitochondrial Myopathy With Diabetes
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... OMIM:500002
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ... ORPHA:90103
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Neck flexor weakness, Facial palsy, Poor head control, ... OMIM:602771
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... OMIM:613287
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... OMIM:609524
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, First do... ORPHA:139536
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... ORPHA:2596
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Myopathy, Centronuclear, 4
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy, Cognitive impairment ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:605589
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Patent ductus... OMIM:619519
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... OMIM:181400
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Proximal musc... OMIM:616687
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... ORPHA:868
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity, Upper limb... ORPHA:99939
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... OMIM:619112
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... OMIM:606595
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... OMIM:616471
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prog... ORPHA:329478
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Distal upper ... OMIM:618912
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:255200
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... ORPHA:254875
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy OMIM:620111
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... OMIM:616209
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overw... ORPHA:486815
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:600361
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
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Progress... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Distal muscle weakness, Flexion contracture, Optic atr... OMIM:609260
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:605253
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Type 1 muscle fiber predominance OMIM:616304
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... OMIM:609284
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal cerebellum morphology, Frontotemporal cerebral atrophy, Dementia, Mental deterioration, ... ORPHA:101001
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... ORPHA:98897
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Distal muscle wea... ORPHA:435387
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia OMIM:238700
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne... OMIM:610687
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Distal amyotroph... OMIM:118210
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, ... OMIM:618484
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Poor head control, Respirator... OMIM:618184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... OMIM:300580
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... OMIM:619042
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... ORPHA:99944
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Muscle weakness OMIM:545000
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Decreased nerve conduction velocity, Upper limb muscle weakness, Distal a... OMIM:302802
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... ORPHA:270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased distal sensory nerve... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... OMIM:607706
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... OMIM:617070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Progressive distal muscl... ORPHA:101077
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocit... OMIM:614399
Klhl9-Related Early-Onset Distal Myopathy
Progressive distal muscle weakness, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abn... ORPHA:399081
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Decreased compound muscle action potential amplitude, Flexion contracture, Myo... OMIM:618323
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... OMIM:603034
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... OMIM:609286
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Lower limb muscle weakness, Th... ORPHA:352675
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... ORPHA:169186
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Failure to thrive, Skele... OMIM:619518
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... ORPHA:457050
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:615376
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Proximal muscle weakness OMIM:606768
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Uppe... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... OMIM:616924
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, ... OMIM:618276
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Dementia, Corticospinal tract atrophy, Proximal muscle weakness OMIM:551500
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Diaph... ORPHA:101081
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:610100
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Small hypothenar eminenc... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Ophthalmoplegia, Upper limb muscle ... OMIM:615284
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:608895
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
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
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness ORPHA:101078
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... OMIM:611228
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... ORPHA:397744
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Mental deterioration, Proximal muscle weakness ... ORPHA:309169
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal muscle weakness, Decreased amplitude of sensory action potentials OMIM:608673
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne... ORPHA:353327
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal muscle weakness, Small for gestational age, Spinal muscular atrophy, Camptodactyly of fing... OMIM:604320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Gowers sign, Decreased compound muscle action potential amplitude, Fl... OMIM:603511
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness, Progressive muscle weakness, I... OMIM:620166
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness, Abnormality o... ORPHA:65684
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Ankle weakne... ORPHA:100998
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Poor head control, Gowers sign, Elbow flexion contractu... ORPHA:97244
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Muscle weakness OMIM:616314
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... OMIM:615348
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy, Aplasia/... ORPHA:1188
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Lateral ventricle dilatation, Increas... OMIM:616816
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... OMIM:600882
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... ORPHA:319514
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Muscle... ORPHA:101082
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Optic atro... ORPHA:401768
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Thenar ... OMIM:270685
Childhood-Onset Nemaline Myopathy
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... ORPHA:171439
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w... OMIM:118300
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Failure to thrive, Nemaline bodies OMIM:618246
Charcot-Marie-Tooth Disease Type 4A
Distal muscle weakness, Hand muscle weakness, Decreased nerve conduction velocity, Quadriceps mus... ORPHA:99948
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si... OMIM:617258
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... OMIM:301830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... OMIM:611307
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegi... ORPHA:254886
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Muscle weakness, Hand muscle weakness OMIM:162500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... ORPHA:370980
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... OMIM:254130
Muscle Filaminopathy
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... ORPHA:171445
Myopathy, Distal, 3
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... OMIM:610099
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Dista... ORPHA:206594
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,... OMIM:300695
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Dandy-Walker malformation OMIM:607091
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proximal muscle weak... OMIM:620389
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Dna2-Related Mitochondrial Dna Deletion Syndrome
Progressive external ophthalmoplegia, Multiple joint contractures, Limb-girdle muscle weakness, G... ORPHA:352470
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Decreased nerve conduction velocity, Fatiguable weakness of proximal limb m... ORPHA:2932
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi... OMIM:619542
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
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
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... OMIM:609285
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Uppe... ORPHA:99950
Central Core Disease
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... ORPHA:597
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... OMIM:161800
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p... ORPHA:431329
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers, Abnormal cerebellum morphology OMIM:618242
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal muscle weakness, Axonal degeneration, Distal am... OMIM:614436
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... OMIM:615368
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... OMIM:600462
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:183050
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Cognitive impairment, Muscle weakness ORPHA:2349
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Poor head control OMIM:614932
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
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Proxi... ORPHA:99953
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu... OMIM:615156
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Ragged-red muscle fibers, Atrophy/Degeneration involving the spinal cord... OMIM:607459
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Proximal muscle weakness OMIM:255100
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Proximal mu... OMIM:607831
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Poor head control, Cachexia, Flexion contracture, Axial muscle weakness,... ORPHA:157973
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... OMIM:619473
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... ORPHA:75840
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:607734
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Flexion contracture, Optic atrophy, Myopathy, Failure to thrive OMIM:618237
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Myopathy, Increased variabil... OMIM:125250
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... OMIM:619790
Neutral Lipid Storage Disease With Myopathy
Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Myopathy, Neck muscle weak... OMIM:610717
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Intr... OMIM:616688
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Generalized mus... OMIM:612954
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:118220
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy... OMIM:619574
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:180800
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, ... OMIM:616239
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle... ORPHA:99013
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... OMIM:609560
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... OMIM:607855
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal muscle weakness, Distal amyotrophy, Decreased distal sensory nerve action potential, Foot ... OMIM:618400
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... ORPHA:98913
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Dementia, Left ventricular hypertrophy OMIM:540000
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Optic atrophy, Abnormal nerve conduction velocity, Muscle weakness ORPHA:99014
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... OMIM:602541
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal... OMIM:601596
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... ORPHA:353
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Poor head control, Myopathy, Muscle weakness ORPHA:300179
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... ORPHA:263494
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Opt... ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:118200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Isolated Glycerol Kinase Deficiency
Myopathy, EEG abnormality ORPHA:408
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Intri... OMIM:614895
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, External ophthalmoplegia... OMIM:619026
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Distal muscle weakness, Cachexi... ORPHA:298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Congenital Myopathy 16
Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu... OMIM:618524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle wea... OMIM:606612
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy OMIM:607250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger, Muscle weakness ORPHA:2928
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Distal muscle weakness, Axonal degeneration, Distal am... OMIM:214400
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Leber Hereditary Optic Neuropathy
Myopathy, Optic atrophy ORPHA:104
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... ORPHA:119
Dermoids Of Cornea
Corneal opacity OMIM:304730
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen... ORPHA:52430
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic disc pallor, Dilated fo... OMIM:164400
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness OMIM:615511
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... OMIM:610131
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Neuromuscular Oculoauditory Syndrome
Poor head control, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexion c... OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion contracture, S... OMIM:608840
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Foot dorsif... OMIM:604563
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Infantile Refsum Disease
Progressive muscle weakness, Failure to thrive, Optic atrophy, Facial palsy ORPHA:772
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Dist... OMIM:302800
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness, Failure to thrive, E... OMIM:614096
Typical Nemaline Myopathy
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... ORPHA:171436
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Proximal muscle weakness, Myopathy, Abdominal obesity, Muscular dystroph... OMIM:615980
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Progressive muscle weakness, Ragged-red muscle fibe... OMIM:607426
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... ORPHA:34515
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Abnormality of the... ORPHA:85446
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Facial palsy, Ankle flexion contracture, ... OMIM:617519
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal mu... OMIM:145900
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Congenital diaphragmatic hernia, Progressive muscle weakness, Neurodegenerati... OMIM:615919
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Axonal degeneration, Intrinsic ... OMIM:615490
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Proximal muscle... OMIM:601455
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Poor head control, Decreased nerve conduction velocity, Corpus callosum atroph... ORPHA:565624
Myopathy, Myofibrillar, 1
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... OMIM:601419
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Distal muscle weakness, Axonal degeneration, Diaphragmatic paralysis, Pl... OMIM:620011
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ophthalmoplegi... OMIM:616479
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Atrophy/Degeneration affecting the brainstem, Abnormal nerve con... OMIM:619862
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Proximal muscle weakness, External ophthalmoplegia, G... ORPHA:3208
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Pro... OMIM:615512
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:613752
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Mental deterioration, Decreased nerve conduction velocity, Motor deterioration, Muscle weakness OMIM:249900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Cachexia, Ragged-red muscle fibers, Generalized muscle weak... OMIM:613662
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Optic atrophy, Brain atrophy OMIM:618236
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Optic atrophy, Ophthalmoparesis, Myopathy, EEG with occipit... ORPHA:254881
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Failure to thrive, Optic atrophy ORPHA:26792
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrop... OMIM:612674
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... ORPHA:272
Krabbe Disease
Diffuse cerebral atrophy, Failure to thrive, Decreased nerve conduction velocity, Optic atrophy, ... OMIM:245200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle... ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Congenital Myopathy 24
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... OMIM:617336
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Failure to thrive ORPHA:91130
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy OMIM:613345
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Muscle weakness, Abnormal muscle fiber protein expression ORPHA:330054
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
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... ORPHA:178148
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Progressive proximal muscle weakness, Limb-girdle muscular dystrophy, Cerebral atrophy ORPHA:369847
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cachexia ORPHA:1933
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... OMIM:613818
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Ophthalmoplegia, Optic atrop... ORPHA:320375
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrop... ORPHA:206436
Optic Atrophy 11
Optic nerve hypoplasia, EEG with focal sharp waves, Optic atrophy, Facial diplegia, Cerebellar hy... OMIM:617302
Dk1-Cdg
Progressive muscle weakness, Multifocal epileptiform discharges, Hypsarrhythmia, Failure to thriv... ORPHA:91131
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Corpus callosum atrophy, Ophthalmo... ORPHA:98673
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:162400
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Galactosialidosis
Corneal opacity ORPHA:351
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Proximal muscle weakness, R... OMIM:254090
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... ORPHA:324604
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular n... OMIM:252011
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia... ORPHA:101076
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Fatty replacement of skeletal muscle, Decreased compound muscle action po... OMIM:618279
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Dementia, Cognitive impairment, Decreased sensory nerv... OMIM:603472
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Myopathy, Muscle weakness OMIM:170400
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... OMIM:261600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w... ORPHA:466768
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Muscle weakness OMIM:232400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... ORPHA:139578
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... OMIM:613327
Cataract 21, Multiple Types