Gene: Vcp MGI:99919

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Vcp (11 diseases)
Human diseases predicted to be associated with Vcp (1254 diseases)

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

Disease	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	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

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