Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
valosin containing protein
Synonyms:
p97,  CDC48,  AAA ATPase p97,  p97/VCP

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Lim... OMIM:167320
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Proximal muscle weakness, Abnormal motor neuron morphology, ... ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... OMIM:613954
Frontotemporal Dementia With Motor Neuron Disease
Proximal muscle weakness, Degeneration of the lateral corticospinal tracts, Global brain atrophy,... ORPHA:275872
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Skeletal muscle atrophy, Motor neuron atrophy, Neurodegener... ORPHA:803
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Hammertoe, Quadriceps muscle w... ORPHA:435387
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... ORPHA:100070
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Generalized muscle weakness ORPHA:329475
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Distal sensory impairment OMIM:616687

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Lim... OMIM:167320
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... OMIM:254110
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... ORPHA:399058
Myopathy, Centronuclear, 2
Gowers sign, Proximal muscle weakness, Talipes equinovarus, Respiratory insufficiency due to musc... OMIM:255200
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... OMIM:616852
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Mitochondrial depletion, Facial palsy, Generalized muscle weakn... OMIM:611705
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... OMIM:609200
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Myoclonus, Seizure, Muscle weakness, Ataxia, Generalized myoc... OMIM:545000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Cardio... ORPHA:86812
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Adducted thumb, Weakness of facial musculature, Talipes equinovarus, Small for gesta... OMIM:618484
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... OMIM:608358
Myofibrillar Myopathy 11
Gowers sign, Proximal muscle weakness, Z-band streaming, Generalized amyotrophy, Shoulder girdle ... OMIM:619178
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Proximal muscle weakness, Limb joint contracture, Failure to thrive, Resp... OMIM:255310
Tubular Aggregate Myopathy
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... ORPHA:2593
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Inclusion Body Myositis
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... ORPHA:611
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... ORPHA:178464
Nemaline Myopathy 2
Mitochondrial depletion, Slender build, Generalized muscle weakness, Late-onset distal muscle wea... OMIM:256030
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Lumbar hyperlordosis, Muscle weakness, Increased variability in m... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Myopathy, Centronuclear, 1
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... OMIM:160150
Bethlem Myopathy 2
Proximal muscle weakness, Myopathy, Kyphosis, Muscle weakness, Hip dislocation, Increased variabi... OMIM:616471
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... ORPHA:399086
Muscular Dystrophy, Congenital, Merosin-Positive
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:609456
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Back pain, Hyperlordosis, Scapular wingi... OMIM:618129
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Proximal muscle weakness, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal mu... OMIM:618655
Vacuolar Neuromyopathy
Neck flexor weakness, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centr... OMIM:601846
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Decreased activity of mi... OMIM:500002
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... ORPHA:486815
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Weakness... ORPHA:457050
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Torticoll... OMIM:158810
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Marinesco-Sjogren Syndrome
Myopathy, Coxa valga, Skeletal muscle atrophy, Short stature, Failure to thrive, Progressive musc... OMIM:248800
Myopathy, Distal, 4
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardio... OMIM:614065
Nemaline Myopathy 7
Gowers sign, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficiency due to muscle we... OMIM:610687
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... ORPHA:266
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Congenital Myopathy With Myasthenic-Like Onset
Proximal muscle weakness, Myopathy, Minicore myopathy, Failure to thrive, Respiratory insufficien... ORPHA:424107
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle weaknes... OMIM:300718
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... OMIM:255320
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Proximal muscle weakness, Abnormal motor neuron morphology, ... ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... OMIM:613954
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Ca... OMIM:613530
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Neck flexor weakness, Limb muscle weakness OMIM:609273
King-Denborough Syndrome
Proximal muscle weakness, Ventricular septal defect, Minicore myopathy, Weakness of facial muscul... OMIM:619542
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... OMIM:613204
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... OMIM:618940
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Proximal muscle weakness, Back pain, Rimmed vacuoles, Spinal rigidit... OMIM:300696
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Increased endomysial connective ... ORPHA:437572
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Generalized amyotrophy, Generalized muscle weakness, Slender finger, Elbow flexion c... ORPHA:75840
Inclusion Body Myositis
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Progressive distal muscle weak... ORPHA:399081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Generalized non-motor (absence) seizure, In... OMIM:618992
Myopathy, Proximal, With Ophthalmoplegia
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... OMIM:605637
Myopathy, Congenital Proximal, With Minicore Lesions
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... OMIM:618823
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Proxi... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... ORPHA:98911
Scapuloperoneal Myopathy, X-Linked Dominant
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular wingin... OMIM:300695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Muscle fiber necrosis, Calf mu... OMIM:618848
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Progressive proximal muscle weakness, General... ORPHA:98912
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
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Distal Anoctaminopathy
Progressive muscle weakness, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrop... ORPHA:399096
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Respiratory insufficiency due to muscle weakness, Muscular dystrophy, Spinal rigidity, Centrally ... OMIM:617066
Merrf
Generalized myoclonic seizure, Ataxia, Myopathy, Ragged-red muscle fibers ORPHA:551
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Short stature, Failure to thrive, Progressive muscle weakness, Rimmed ... OMIM:619518
Spinal Muscular Atrophy, Type Iii
Proximal muscle weakness, Skeletal muscle atrophy, Muscle weakness, Spinal muscular atrophy, Dege... OMIM:253400
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal muscl... OMIM:271150
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Proximal muscle weakness, Myopathy, Growth delay OMIM:255140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle ... OMIM:612937
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Nemaline Myopathy 1
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... OMIM:609284
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Proximal muscle weakness, Ragged-red muscle fibe... OMIM:160500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Short stature, Respiratory insufficiency due to muscle weakness... OMIM:300580
Myopathy, Spheroid Body
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... OMIM:182920
Rigid Spine Syndrome
Poor head control, Myopathy, Gowers sign, Skeletal muscle atrophy, Hip contracture, Hamstring con... ORPHA:97244
Autosomal Recessive Centronuclear Myopathy
Gowers sign, Hip contracture, Talipes equinovarus, Facial diplegia, Progressive muscle weakness, ... ORPHA:169186
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Decreased activity of mitochondrial complex IV, Muscle weakness, Increased intramyocellular lipid... OMIM:619062
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... OMIM:603034
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... OMIM:105550
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... OMIM:616924
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... ORPHA:97240
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints, Bilateral tonic-clonic seizure OMIM:608278
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Spinal muscular atrophy, Skeletal muscle atrophy, Muscle wea... OMIM:253550
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Proximal muscle weakness, Angulated muscle fibers, Weakness of facial musculature, Shoulder girdl... OMIM:619477
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neu... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neu... OMIM:616437
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... ORPHA:171439
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Gowers sign, Proximal muscle weakness, Limb muscle weaknes... OMIM:617258
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogryposis multiple... OMIM:301830
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... OMIM:614373
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Skeletal muscle atrophy, Rimmed vacuoles, Hyperlordosis, Calf muscle hy... OMIM:617760
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, Paresthesia, EMG: myopathic abnormalities, Proximal musc... OMIM:619216
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gowers sign, Myopathy, Progressive external ophthalmoplegia, Slender build, Decreased mitochondri... ORPHA:352470
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Proximal muscle weakness, Progressive distal muscular atrophy, Respiratory insuffici... OMIM:159950
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Spondyloli... ORPHA:270
Neuropathy, Ataxia, And Retinitis Pigmentosa
Seizure, Proximal muscle weakness, Myopathy, Ataxia OMIM:551500
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... ORPHA:353327
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Proximal muscle weakness, Scoliosis, Fatigable weakness OMIM:614750
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
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
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Neck flexor weakness, Respirato... ORPHA:171442
Pontocerebellar Hypoplasia, Type 1A
Congenital contracture, Basal ganglia gliosis, Muscle weakness, Spinal muscular atrophy, Degenera... OMIM:607596
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
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... ORPHA:597
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Moderate Multiminicore Disease With Hand Involvement
Talipes equinovarus, Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Ax... ORPHA:178145
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Calf muscle hypoplasi... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... OMIM:618138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Limb mu... OMIM:609286
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... OMIM:602771
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... ORPHA:663
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Proximal muscle weakness, Myopathy, Cardiomyopathy, Scoliosis, Fatty replacement of skeletal muscle OMIM:255100
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy, Lumbar hyperlordosis, Short stature OMIM:253320
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Short stature, C... OMIM:610717
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Foot dorsif... OMIM:617087
Isolated Glycerol Kinase Deficiency
Seizure, Myopathy, Osteoporosis ORPHA:408
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Proximal muscle weakness, Chorea, Ataxia, Ophthalmoplegia,... ORPHA:401768
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Amyotrophic lateral sc... OMIM:105400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Weakness of facial muscu... ORPHA:254875
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal muscle weakness, Distal amyotrophy OMIM:606768
Nemaline Myopathy 3
Dilated cardiomyopathy, Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Res... OMIM:161800
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Talipes equinovarus, Arthrogryposis multiplex congenita, Conge... OMIM:208100
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, First dorsal interossei muscle weakness, Kyphoscoliosis, Intrinsic hand muscle ... OMIM:619574
Oculopharyngodistal Myopathy
Fatigable weakness of bulbar muscles, Progressive external ophthalmoplegia, Weakness of facial mu... ORPHA:98897
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... OMIM:603689
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Muscle weakness, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis,... OMIM:612069
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... ORPHA:34516
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr... OMIM:600175
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy, Intrauterine growth retardation OMIM:618246
Myasthenic Syndrome, Congenital, 14
Gowers sign, Ragged-red muscle fibers, Fatigable weakness, Hyperlordosis, Flexion contracture, Sc... OMIM:616228
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Increased intramyocellular lipid droplets, Ataxia, Inc... OMIM:619065
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Bilateral tonic-clonic seizure, Chorea, Muscle fiber atrophy,... ORPHA:369840
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... OMIM:160565
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... ORPHA:353
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... ORPHA:596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability... OMIM:253601
Acetyl-Coa Carboxylase Deficiency
Myopathy, Growth delay OMIM:613933
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... OMIM:610099
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Decreased activity of mitocho... ORPHA:254864
Nemaline Myopathy 4
Gowers sign, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Flex... OMIM:609285
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, Joint contracture of the hand, Generalized muscle weakness, Elbow flexion co... ORPHA:536516
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Monomelic Amyotrophy
Muscle weakness, Distal upper limb amyotrophy, Degeneration of anterior horn cells ORPHA:65684
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis OMIM:611225
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy, Scoliosis, Proportionate short stature ORPHA:50817
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia,... ORPHA:352447
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy OMIM:616314
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Progressive external ophthalmoplegia, External ophthalmoplegia, Failure to thrive, Faci... OMIM:201470
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Intrauterine growth retardation, Talipes equinovarus, Limb muscle weakne... OMIM:604320
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology, Distal amyotrophy, Di... OMIM:607641
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Muscular dystrophy, Spinal rigidity, Muscle weakness, Increased endomy... OMIM:617072
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Proximal muscle weakness, Scapuloperoneal amyotrophy, Talipes equinovarus, Respiratory insufficie... OMIM:611067
Typical Nemaline Myopathy
Genu varum, Axial muscle weakness, Arthrogryposis multiplex congenita, Kyphosis, Hip dislocation,... ORPHA:171436
Desminopathy
Fatigable weakness of bulbar muscles, Neck flexor weakness, Weakness of facial musculature, Progr... ORPHA:98909
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Seizure, Myopathy, Skeletal muscle atrophy ORPHA:2597
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 Dominant 2
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... OMIM:609283
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Myopathy, Cachexia, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, F... ORPHA:157973
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Myopathy, Facial palsy, Congenital muscular dystrophy, Seizure, Muscular dystrophy, ... OMIM:602541
Multifocal Motor Neuropathy
Progressive muscle weakness, Weakness of long finger extensor muscles, Progressive distal muscle ... ORPHA:641
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Respiratory insuffic... ORPHA:600
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achill... ORPHA:254361
Glycogen Storage Disease Ixb
Muscle weakness, Short stature, Increased muscle glycogen content OMIM:261750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Genu varum, Arthralgia of the hip, Short stature, Fragmentation of the metacarpal epiph... ORPHA:166002
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Gowers sign, Reduced muscle fiber alpha dystroglycan, Limb-girdle musc... ORPHA:280333
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Frontotemporal Dementia With Motor Neuron Disease
Proximal muscle weakness, Degeneration of the lateral corticospinal tracts, Global brain atrophy,... ORPHA:275872
Spastic Ataxia 5, Autosomal Recessive
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Increased intramyo... OMIM:614487
Ullrich Congenital Muscular Dystrophy 1
Proximal muscle weakness, Reduced muscle collagen VI, Talipes equinovarus, Torticollis, Failure t... OMIM:254090
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Spasticity of facial muscles, Abnormal lower motor neuron morpholo... OMIM:205100
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Kyphosis, Scoliosis OMIM:618234
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Shoulder girdle ... OMIM:606070
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Proximal muscle weakness, Gliosis, Axonal degeneration, Degeneration of ante... OMIM:604484
Scapuloperoneal Spinal Muscular Atrophy
Scapular muscle atrophy, Talipes equinovarus, Torticollis, Gowers sign, Progressive distal muscul... OMIM:181405
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... OMIM:605809
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Cerebellar atrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoli... ORPHA:370980
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Kyphoscol... OMIM:214150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Impaired... OMIM:157640
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Progressive muscle weakness, Anemia, Seizure, Ataxia, Pancytopenia OMIM:607426
Amyotrophic Lateral Sclerosis 8
Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Neuronal loss in ... OMIM:608627
Pleoconial Myopathy With Salt Craving
Proximal amyotrophy, Proximal muscle weakness, Myopathy OMIM:262900
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... OMIM:609560
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Bilateral tonic-clonic seizure, Decreased muscle glycogen content OMIM:611556
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Facial palsy, Generalized amyotrophy, EMG: ... OMIM:612954
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy, Decreased activity of mitochondrial respiratory chain OMIM:613076
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis OMIM:168400
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Duchenne Muscular Dystrophy
Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Calf muscle hyper... ORPHA:98896
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Ocular Myopathy With Curare Sensitivity
Myopathy, Static ophthalmoparesis, Limb muscle weakness OMIM:257600
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu... OMIM:254130
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Clinodactyly, Kyphosis, Axial muscle weakn... ORPHA:178148
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed... OMIM:603511
Nemaline Myopathy 8
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... OMIM:615348
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Corpus callosum atrophy, Cardiomyopathy OMIM:225740
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Proximal muscle weakness, Cachexia, Skeletal muscl... ORPHA:300605
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne... OMIM:300816
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Congenital muscular dystrophy, ... OMIM:607855
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Poor head control, Myopathy, Skeletal muscle atrophy, Osteopenia, Muscle weakness ORPHA:300179
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98855
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... ORPHA:169189
Myopathy, Congenital, With Tremor
Proximal muscle weakness, EMG: myopathic abnormalities, Spinal rigidity, Flexion contracture, Sca... OMIM:618524
Classic Multiminicore Myopathy
Poor head control, Increased muscle lipid content, Mitral valve prolapse, Weakness of facial musc... ORPHA:324604
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Cerebellar atrophy, Abnormal mitochondrial morphology, Scoliosis, Upper... ORPHA:99013
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodac... OMIM:610140
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy, Generalized muscle weakness OMIM:616321
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Episo... OMIM:618924
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external... OMIM:617070
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Ataxia, Bilateral tonic-clonic seizure OMIM:618425
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Skeletal muscle atrophy, Motor neuron atrophy, Neurodegener... ORPHA:803
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Facial palsy, Abnormal cortical bone morphology ORPHA:3416
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Proximal muscle weakness, Absent muscle dystrophin expression, Abnormalit... ORPHA:206546
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalit... ORPHA:397744
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy, Kyphosis, Distichiasis, Scoliosis, Delayed puberty ORPHA:2598
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal skeletal muscle morphology, Internally nucleated skeletal muscle fibers, Axial muscle we... ORPHA:98905
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Short stature, Low posterior hairline, Cervical C2/C3 vertebral fusion, Cardiomyopathy,... OMIM:616549
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Proximal muscle weakness, Pelvic girdle muscle weakness, Reduced muscle f... ORPHA:34515
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Cerebellar at... ORPHA:254886
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Proximal muscle weakness, Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Cent... OMIM:616812
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Talipes equinovarus, Rocker bott... OMIM:611890
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Impaire... OMIM:258450
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Kyphosis, Short thumb, Cerebral atrophy, Clinodactyly of the 5th finger, Camptodac... OMIM:618453
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Respiratory insufficiency due to muscle weakness, Increased ... OMIM:616816
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Muscl... ORPHA:263494
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Nemaline Myopathy 11, Autosomal Recessive
Gowers sign, Talipes equinovarus, Facial palsy, Cardiomyopathy, Scapular winging, Nemaline bodies OMIM:617336
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... OMIM:602433
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Idiopathic Camptocormia
Spinal canal stenosis, Abnormal intervertebral disk morphology, Myositis, Amyotrophic lateral scl... ORPHA:1320
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Proximal muscle weakness, Cerebellar atrophy, Vertebral fusion, Macroglossia... OMIM:606612
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Facia... OMIM:608930
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hammertoe, Facial palsy, Nemaline bodies, Split hand, Flexion contracture, Distal amyotrophy, Hyp... OMIM:607684
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Talipes equinovarus, Hand clenching, Respiratory insufficiency due to mu... OMIM:618291
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Erythroid hyperplasia, Progressive muscle weakness, Pappenheimer... OMIM:600462
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Generalized amyotr... OMIM:613561
Hypophosphatasia, Childhood
Seizure, Myopathy, Craniosynostosis OMIM:241510
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Myopathy, Hypertrichosis, Arthrogryposis multiplex congenita OMIM:201550
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture OMIM:616313
Coenzyme Q10 Deficiency, Primary, 4
Proximal muscle weakness, Myoclonus, Increased intramyocellular lipid droplets, Seizure, Ataxia OMIM:612016
Combined Oxidative Phosphorylation Deficiency 28
Decreased activity of mitochondrial complex IV, Muscle weakness, Ragged-red muscle fibers, Decrea... OMIM:616794
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Abnormal neuron morphology, Focal impaired awareness seizur... ORPHA:65683
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morphology, Clavicular sclerosis... ORPHA:2790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Proximal muscle weakness, Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormaliti... OMIM:611307
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Osteopenia, Atonic seizure, Gait at... OMIM:617810
Cap Myopathy
Fatiguable weakness of proximal limb muscles, Gowers sign, Abnormal muscle fiber morphology, Poor... ORPHA:171881
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Short stature ORPHA:366
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Metatar... ORPHA:559
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Abnormality of the mitochondrion, Failure to thrive ORPHA:91130
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Skeletal muscle atrophy, Bilateral tonic-clonic seizure ORPHA:100988
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Leber Hereditary Optic Neuropathy
Myopathy, Mitochondrial respiratory chain defects ORPHA:104
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, Skeletal myopathy, Talipes equ... OMIM:302060
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Cerebellar atrophy, Gliosis, Cerebral atrophy OMIM:618369
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Abnormal mitochondria in muscle tissue, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ata... ORPHA:313772
Arts Syndrome
Seizure, Progressive muscle weakness, Ataxia OMIM:301835
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Chorea, Seizure, Limb-girdle muscular dystrophy, Truncal ataxia, Progressive proximal m... ORPHA:369847
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizur... ORPHA:330050
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Zimmermann-Laband Syndrome 3
Small nail, Hypertrichosis, Triphalangeal thumb, Low anterior hairline, Absent toenail, Absent di... OMIM:618658
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Infantile Refsum Disease
Seizure, Progressive muscle weakness, Facial palsy, Ataxia ORPHA:772
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Decreased activity of mitochondrial complex III, Increased intramyocellular lipid dropl... OMIM:255125
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Slender long bone, Hyperlordosis,... ORPHA:262
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Endocardial fibroelastosis, Cardiomegal... OMIM:212140
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Flexion ... OMIM:310440
Ane Syndrome
Motor neuron atrophy, Short stature, Kyphoscoliosis, Alopecia, Generalized amyotrophy, Multiple j... ORPHA:157954
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrop... OMIM:613818
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Bilateral tonic-clonic seizure, Left ventricular hypertrophy,... OMIM:540000
Combined Oxidative Phosphorylation Deficiency 24
Proximal muscle weakness, Myopathy, Cerebellar atrophy, Skeletal muscle atrophy, Neurodegeneratio... OMIM:616239
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Myopathy, Intrauterine growth retardation, Failure to thrive, Kyphos... OMIM:618237
Hereditary Continuous Muscle Fiber Activity
Seizure, Congenital diaphragmatic hernia, Ataxia, Type 1 muscle fiber predominance ORPHA:972
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Sengers Syndrome
Hypertrophic cardiomyopathy, Muscle weakness, Myopathy, Growth delay OMIM:212350
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic... OMIM:245570
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Poor head control, Type 2 muscle fiber atrophy, Choreoathetosis, Gener... OMIM:617519
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy, Late-onset spinocerebellar degeneration OMIM:230450
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Glycogen Storage Disease Iii
Myopathy, Short stature, Ventricular hypertrophy, Cardiomyopathy, Muscle weakness, Distal amyotrophy OMIM:232400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Gowers sign, Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy... OMIM:253700
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Short stature, Macroglossia, Muscle weakness ORPHA:2349
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Dk1-Cdg
Infantile spasms, Bilateral tonic-clonic seizure, Progressive muscle weakness, Seizure, Focal-ons... ORPHA:91131
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Neck flexor weakness, Increased mitochondrial number, Ventricular hypertro... ORPHA:263297
Familial Focal Epilepsy With Variable Foci
Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, ... ORPHA:98820
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Hypertrichosis, Rocker bottom foot, Generalized amyotrophy, Arachnodactyly... OMIM:271225
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, In... ORPHA:119
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... OMIM:616470
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Immune-Mediated Necrotizing Myopathy
Fatiguable weakness of proximal limb muscles, Proximal muscle weakness in lower limbs, Myopathy, ... ORPHA:206569
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Fiber type grouping, Decreased activity of mitochondrial complex IV, D... OMIM:500013
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Myopathy, Generalized non-motor (absence) seizure OMIM:618242
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Proximal muscle weakness, Skeletal muscle atrophy, EMG: myopathic abnormalities, Muscular dystrop... OMIM:608807
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Facial palsy, Abnormal cortical bone m... ORPHA:3152
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Myopathy, Seizure, Ataxia, Reticulocytosis, Rhabdomyolysis OMIM:300653
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Respiratory insuffi... OMIM:619461
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Decreased cervical spine mobility, Spinal deformities, Facial palsy,... ORPHA:370968
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Anemia, Splenomegaly, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clo... OMIM:610539
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Short stature, Hypoplastic acetabulae, Platyspondyly, Kyphosis, Diffuse ... OMIM:230650
Acquired Partial Lipodystrophy
Seizure, Myopathy, Lymphocytosis ORPHA:79087
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Growth delay, External ophthalmoplegia, Long eyelashes, Increased v... OMIM:619026
Triosephosphate Isomerase Deficiency
Myopathy, Skeletal muscle atrophy, Normocytic anemia, Progressive muscle weakness, Respiratory in... OMIM:615512
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Axial Osteomalacia
Proximal muscle weakness, Myopathy, Increased bone mineral density, Osteomalacia OMIM:109130
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Small for gestational age, Flexion contracture, Conge... OMIM:615368
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Growth delay, Talipes equinovarus, Tapered finger, Failure to ... OMIM:254940
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Muscle wea... OMIM:616867
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Osteoporosis, Osteopenia, Seizure, Status epilepticus,... ORPHA:529665
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Choreoathetosis OMIM:104290
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Abnormal muscle fiber morphology, Hirsutism, Broad thum... OMIM:175700
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-o... OMIM:619301
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weak... OMIM:601419
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter OMIM:125250
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness, Skeletal muscle atrophy OMIM:252320
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Muscle weakness, Amyotrophic lateral sclerosis, Bulbar palsy OMIM:105500
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Sev... OMIM:156530
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Diffuse cerebellar atro... ORPHA:477774
Glycerol Kinase Deficiency
Seizure, Muscular dystrophy, Myopathy, Osteoporosis OMIM:307030
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Anemia,... OMIM:619302
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Myoclonic seizure, Flexion contracture, Bilateral tonic-clonic se... OMIM:618856
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly ORPHA:139406
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:609056
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Intrauterine growth retardation, Hypoglycosylation of alpha-dys... ORPHA:272
Juvenile Primary Lateral Sclerosis
Muscle weakness, Skeletal muscle atrophy, Abnormal upper motor neuron morphology ORPHA:247604
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Intrauterine growth retardation, Small for gestational age, Gliosis, Arthrogr... OMIM:615095
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Sarcosinemia
Ataxia, Peroneal muscle weakness, Bilateral tonic-clonic seizure ORPHA:3129
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... ORPHA:2382
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Respiratory insufficiency ... ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy, Brain atrophy OMIM:618236
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Bilateral tonic-clonic seizure, Nocturnal seizure... ORPHA:98818
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Flexio... OMIM:618393
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Pontocerebellar Hypoplasia, Type 4
Gliosis, Congenital contracture OMIM:225753
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Systemic Primary Carnitine Deficiency
Muscle weakness, Bilateral tonic-clonic seizure with focal onset, Neck muscle weakness ORPHA:158
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
Synaptic Congenital Myasthenic Syndromes
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Limb-girdle muscular dyst... OMIM:616052
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activit... OMIM:615418
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Limb muscle weakness, Progressive muscle weakness, Facial p... OMIM:610131
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Ophthalmoparesis, Fatigable weakness, Generalized muscle weakness, I... OMIM:601462
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Impaire... OMIM:607459
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone min... ORPHA:970
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Familial Isolated Dilated Cardiomyopathy
Myopathy, Abnormality of neutrophils ORPHA:154
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia ORPHA:33574
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Gliosis, Distal amyotrophy, Peroneal muscle weakness, Degeneration of an... OMIM:118301
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Growth delay, Skeletal myopathy, E... ORPHA:57
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral bodi... OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Proximal muscle weakness, Skeletal muscle hypertrophy, Short stature, Macroglossia, Achilles tend... OMIM:608840
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizure with lau... ORPHA:178469
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Myopathy, Episodic flaccid weakness OMIM:170400
Machado-Joseph Disease Type 3
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Cerebellar atrophy, Degeneration o... ORPHA:276244
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Ragged-red muscle fibers, Skeletal muscle atrophy, Pr... ORPHA:480
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Skeletal muscle atrophy, Scoliosis, Kyphosis ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:614924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Proximal muscle weakness, Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral cortical atrophy OMIM:615911
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Proximal muscle weakness, EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weak... ORPHA:99939
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal muscle weakness, Poor head control, Skeletal muscle atrophy, Abnormal heart morphology, ... ORPHA:26791
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, Osteoporosis... ORPHA:79240
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Adrenomyodystrophy
Seizure, Myopathy, Reduced bone mineral density ORPHA:977
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, ... OMIM:254210
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Reduced muscle fiber alp... ORPHA:206559
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Ataxia, Bilateral tonic-clonic seizure wi... OMIM:619028
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... ORPHA:3006
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature, Facial palsy, Ophthalmo... ORPHA:3068
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Myopathy Due To Myoadenylate Deaminase Deficiency
Muscle weakness, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... ORPHA:79137
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Proximal muscle weakness, Poor head control, Skeletal muscle atrophy... ORPHA:3208
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Late-onset proximal muscle weakness, Increased intramyocellular... ORPHA:681
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness OMIM:619133
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Proximal muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Seizure, M... OMIM:615352
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Febrile seizure (within the age range of 3 months to 6 years), S... ORPHA:42
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in musc... OMIM:619334
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, P... ORPHA:2020
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen, Osteoporos... ORPHA:264580
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Rhabdo... ORPHA:368
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Central nervous system degeneration, Proximal humeral metaphyseal irregularity, Wafer-thin platys... OMIM:602613
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Muscle weakness, Amyotrophic lateral sclerosis OMIM:613435
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Impaired distal proprioception, Myoclonus, Op... ORPHA:70595
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Intrauterine growth retardation, Small for gestational age, Cerebellar... ORPHA:79243
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Kyphosis,... OMIM:313420
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal emotional seizur... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Kyphosis, Left... OMIM:619040
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Restrictive partial external ophthalmoplegia, Congenital fibrosis of extra... OMIM:609384
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen, Splenomega... ORPHA:370
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Scoliosis, Kyphosis ORPHA:101075
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Mitochondrial respiratory chain defects, Poor head control, Type 2 mus... ORPHA:319514
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802