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Gene: Vcp MGI:99919

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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,  AAA ATPase p97,  CDC48,  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.

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
Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... OMIM:167320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Short stature, Weakness of muscles of respiration, ... ORPHA:52430
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Gliosis, Distal muscle weakness, Abnormal mitochondrial morphology, Degeneration of... ORPHA:275872
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Fatigable weakness of bu... ORPHA:803
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities, Rimmed v... ORPHA:329478
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Mental deterioration, Anxiety, Memory impairment, Abnormal... ORPHA:100070
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs,... ORPHA:435387
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Generalized muscle weakness, Increased spinal bone density 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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... OMIM:254110
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Myofiber dis... OMIM:301075
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... OMIM:608423
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Salih Myopathy
Flexion contracture, Mitochondrial depletion, Calf muscle hypertrophy, Scoliosis, Dilated cardiom... OMIM:611705
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Proximal muscle weakness in lower limbs, Neck flexor weakness, Ragged-red muscle f... OMIM:616209
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Spinal rigidity... OMIM:602771
Myopathy, Centronuclear, 2
Kyphosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Talipes equinovarus, Fle... OMIM:255200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... OMIM:609452
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Ragged-red muscle fibers, Muscle weakness, Seiz... OMIM:545000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Proximal muscle weakness, Achilles tend... OMIM:609200
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Left ventricular hypertrop... ORPHA:86812
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Fac... OMIM:255310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... OMIM:167320
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... ORPHA:603
Distal Nebulin Myopathy
Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Weakness of ... ORPHA:399103
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... OMIM:616471
Multiminicore Myopathy
Failure to thrive, Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morpho... ORPHA:598
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Dec... OMIM:500002
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Short stature, Distal muscle weakness, Increased variabili... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis, Abdominal wall muscle weakness, Muscle fiber splitting, Proximal muscle... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... ORPHA:399086
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... OMIM:256030
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Paget disease of bone, Myositis, Muscle weakness, Centrall... OMIM:615422
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... OMIM:601846
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Short stature, Proximal muscle weakness in lower limbs, Weakness ... ORPHA:457050
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Myopathy, Myosin Storage, Autosomal Recessive
Proximal muscle weakness, Thoracic scoliosis, Short stature, Calf muscle hypertrophy, EMG: myopat... OMIM:255160
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Back pain, Spinal rigidity, Skeletal muscle hyp... OMIM:300696
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, Spinal rigidity, EMG: myopathic abnormalities, Mi... ORPHA:486815
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Distal amyotrophy, Deposit... OMIM:605820
Myopathy, Distal, 4
Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... OMIM:614065
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy, Neck flexor weakness OMIM:609273
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... OMIM:253400
Bethlem Myopathy 1
Torticollis, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Distal m... OMIM:158810
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Somatic sensory dysfunction, Pr... OMIM:158600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... ORPHA:266
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, Respiratory insufficiency due to muscle weakness,... ORPHA:424107
Marinesco-Sjogren Syndrome
Failure to thrive, Kyphosis, Coxa valga, Short metacarpal, Flexion contracture, Short stature, Ri... OMIM:248800
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Gowers sign, Weakness of facial musculatur... OMIM:610687
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Short stature, Weakness of muscles of respiration, ... ORPHA:52430
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... OMIM:613530
King-Denborough Syndrome
Failure to thrive, Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Short stature, Wea... OMIM:619542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Distal upper limb muscle weakness, Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle ... OMIM:619566
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... OMIM:613204
Congenital Muscular Dystrophy, Ullrich Type
Increased endomysial connective tissue, Slender finger, Increased variability in muscle fiber dia... ORPHA:75840
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Scoliosis, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck ... OMIM:605637
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... ORPHA:399081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Gener... OMIM:618992
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Progressive proximal muscle weakness, Limb-girdle muscle weakness,... ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Proxi... OMIM:609524
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Proximal muscle weakness, Weak... ORPHA:1145
Distal Anoctaminopathy
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... ORPHA:399096
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Lumbar hyperlordosis, Proximal muscle weakness, Toe extensor amy... OMIM:160500
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Spinal rigidity, Muscular dystrophy, Scoliosis, Neck muscle weakness, Centrally nucleated skeleta... OMIM:617066
Merrf
Ragged-red muscle fibers, Ataxia, Generalized myoclonic seizure, Myopathy ORPHA:551
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy With Giant Abnormal Mitochondria
Growth delay, Limb-girdle muscle atrophy, Myopathy, Proximal muscle weakness OMIM:255140
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopa... OMIM:612937
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... OMIM:609284
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Decreased body weight, Short stature, Type 1 fi... OMIM:300580
Myopathy And Diabetes Mellitus
Progressive cerebellar ataxia, Progressive proximal muscle weakness, Impaired vibratory sensation... ORPHA:2596
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Gowers sign, Poor head control, Spinal rigidity, Scolios... ORPHA:97244
Myopathy, Spheroid Body
Distal muscle weakness, Neck flexor weakness, Muscle weakness, Proximal muscle weakness, Skeletal... OMIM:182920
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Short stature, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Sc... OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... OMIM:616924
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Gowers sign, Talipes equinovarus, Left ventricular hypertrophy,... ORPHA:169186
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:603034
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... OMIM:105550
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Muscle weakness, Spinal muscular at... OMIM:253550
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... OMIM:619477
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Reduced muscle carnitine level, Myopathy OMIM:212160
Myopathy, Myofibrillar, 8
Nemaline bodies, Gowers sign, Spinal rigidity, Scapular winging, Scoliosis, Joint contracture of ... OMIM:617258
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Distal muscle weakness, Scoliosis, Hyperlordosis, Proxi... OMIM:617760
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Respiratory insufficiency due to muscle weakness... ORPHA:171439
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Gowers sign, Limb-girdle muscle weakness, Progressive... ORPHA:352470
Neuropathy, Hereditary Motor, With Myopathic Features
Distal upper limb muscle weakness, Flexion contracture, Proximal muscle weakness in lower limbs, ... OMIM:619216
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Scoliosis, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Ragged-red muscle fibers, M... ORPHA:270
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Generalized amyotrophy, Myopathy OMIM:618323
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inc... OMIM:606070
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Lumbar hyperlordosis, Poor head control, Flexion contracture, Distal muscle weakness... ORPHA:353327
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Type 1 mus... ORPHA:178145
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Increased variabilit... OMIM:616816
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Degeneration of anterior horn cells, Progressive distal muscular atrophy, Scoliosis,... OMIM:159950
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Talipes equi... ORPHA:597
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Neuropathy, Ataxia, And Retinitis Pigmentosa
Proximal muscle weakness, Ataxia, Myopathy, Seizure OMIM:551500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:300717
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Contractures of the large joints, Osteoporosis OMIM:608278
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture, Neonatal death, Decreased activity of mitochond... OMIM:618237
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myop... ORPHA:171442
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, Poor head control, Talipes equinovarus, Diaphragmatic w... OMIM:614399
Isolated Glycerol Kinase Deficiency
Osteoporosis, Myopathy, Seizure ORPHA:408
Cardiomyopathy, Dilated, 1X
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated car... OMIM:611615
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Scoliosis, Fatty replacement of skeletal muscle, Proximal muscle weakness, Cardiomyopathy, Myopathy OMIM:255100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Sensory ataxia, EMG: myopathic abnormalities, Progressive external opht... OMIM:609286
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... OMIM:208100
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Lumbar hyperlordosis, Myopathy, Short stature OMIM:253320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal... OMIM:618138
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Increased variability in muscle fiber diameter, Chorea, Proximal muscle weakness, Central... ORPHA:401768
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Proximal muscle weakness, Respiratory insufficien... OMIM:617087
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Degeneration of the lateral c... OMIM:105400
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Myopathy, Distal amyotrophy OMIM:606768
Nemaline Myopathy 3
Slender build, Nemaline bodies, Spinal rigidity, EMG: myopathic abnormalities, Scoliosis, Type 1 ... OMIM:161800
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Abnormal lower motor ne... OMIM:602099
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency due to muscle weakness, Progressive proximal muscle weakness, Weakness ... ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Generalized-onset seizure, Muscle weakness, Seizure, Skeletal muscle at... OMIM:300816
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... OMIM:619574
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Talipes equinovarus, Degeneration of anterior horn cells, Basal gangli... OMIM:607596
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Obesity OMIM:617885
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Scoliosis, Fatigable weakness, Hyp... OMIM:616228
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... ORPHA:98897
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Muscle weakness OMIM:614808
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Muscle weakness, Respiratory insufficienc... OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness OMIM:619141
Mitochondrial Complex I Deficiency, Nuclear Type 25
Intrauterine growth retardation, Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Impaired ... OMIM:607459
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Short stature, Abnormality of the epiphyses of the feet, Gen... ORPHA:166002
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Talipes equinovarus, Nonprogressive muscular atrophy, Distal muscle we... OMIM:600175
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... ORPHA:596
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, Decreased activity of mitochon... OMIM:609560
Acetyl-Coa Carboxylase Deficiency
Growth delay, Myopathy OMIM:613933
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Gowers sign, Flexion contracture, Type 1 muscle... OMIM:609285
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Increased endomysial connective tissue, Lumbar hyperlordosis, Macroglossia, Right ve... ORPHA:353
Myopathy, Distal, 3
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... OMIM:610099
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis OMIM:611225
Monomelic Amyotrophy
Degeneration of anterior horn cells, Muscle weakness, Distal upper limb amyotrophy ORPHA:65684
Duane Anomaly-Myopathy-Scoliosis Syndrome
Proportionate short stature, Scoliosis, Myopathy ORPHA:50817
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Scoliosis, Progressive external ophthalmoplegia, External... OMIM:201470
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Diaphragmatic weakness, Talipes equinovarus, Axonal degeneration, Small for ge... OMIM:604320
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Joint contracture of the hand, Distal muscle weakness, Scoliosis, Spinal mus... OMIM:611067
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy OMIM:616314
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Bilateral tonic-clonic seizure,... ORPHA:369840
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy OMIM:608030
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Weakness of facial m... ORPHA:352447
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... OMIM:500009
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Distal muscle weakness, D... OMIM:608627
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Flexion contracture, ... OMIM:253700
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... OMIM:607641
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Typical Nemaline Myopathy
Facial diplegia, Increased variability in muscle fiber diameter, Short neck, Neck flexor weakness... ORPHA:171436
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy, Seizure ORPHA:2597
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Spinal rigidity, Flexion contracture, Muscular dystrophy,... OMIM:617072
Desminopathy
Weakness of facial musculature, Neck flexor weakness, Progressive muscle weakness, Axial muscle w... ORPHA:98909
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Myoclonus, Increased variability in muscle fiber diameter, Increased intramyocellular lip... OMIM:619065
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Lumbar hyperlordosis, Calf muscle hypertrop... ORPHA:280333
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Spinal rigidity, Flexion contracture, Cachexia, Hyperlordosis, Axial muscle we... ORPHA:157973
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Gowers sign, Decreased cervical spine flexion due to contractures of posterior cervical muscles, ... ORPHA:254361
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness, Weakness o... ORPHA:641
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Muscle weakness, Seizure, Facial ... OMIM:602541
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Proximal muscle weakness, Prox... OMIM:604484
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, EMG: myopathic abnormal... ORPHA:370980
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Muscle fiber splitting, Scapuloperoneal amyotrophy, Progressive distal muscle w... OMIM:181405
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Gliosis, Distal muscle weakness, Abnormal mitochondrial morphology, Degeneration of... ORPHA:275872
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Kyphosis, Scoliosis, Hypertrophic cardiomyopathy, Myopathy OMIM:618234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:605809
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Muscle weakness OMIM:617709
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Pleoconial Myopathy With Salt Craving
Proximal muscle weakness, Myopathy, Proximal amyotrophy OMIM:262900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Lower-limb joint contracture, Muscle fiber atrophy, Upper-limb joi... ORPHA:300605
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Talipes equinovarus, Kyphos... OMIM:254090
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... ORPHA:98905
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Short stature, Increased muscle lipid content, Proximal muscle weakness, Neck muscle... OMIM:610717
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Decreased activity of mitochondrial respiratory chain, Myopathy OMIM:613076
Myopathy, Myofibrillar, 6
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Scolios... OMIM:612954
Duchenne Muscular Dystrophy
Flexion contracture, Calf muscle hypertrophy, Progressive muscle weakness, Proximal muscle weakne... ORPHA:98896
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Ophthalmoparesis, Muscle weakness, F... OMIM:615348
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... OMIM:168400
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposi... OMIM:254130
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... ORPHA:178148
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Talipes equinovarus, Spinal r... OMIM:617114
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Abnormal mitochondrial morphology, Scoliosis, Lower limb muscle weakne... ORPHA:99013
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Corpus callosum atrophy, Cardiomyopathy OMIM:225740
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Poor head control, Osteopenia, Muscle weakness, Skeletal muscle atrophy, Myopathy ORPHA:300179
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Proximal muscle weakness, Retrocollis, Short stature, Distal muscl... OMIM:205100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Myopathy, Congenital, With Tremor
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Distal ... OMIM:618524
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Distal muscle weakness, Degeneration of anter... OMIM:602433
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... OMIM:610140
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Bulbar palsy, Talipes equinovarus, Gowers sign, Proximal muscle weakne... OMIM:615290
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Distal muscle weakness, Progressive external ophthalmoplegia, Ragged-r... OMIM:617070
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Spinal r... ORPHA:324604
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy OMIM:302045
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Calf mu... ORPHA:206546
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Fatigable weakness of bu... ORPHA:803
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Type 1 muscle fiber predominance, Muscle weakness, Cerebellar atrophy, Skeleta... OMIM:618276
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy ORPHA:3416
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:162350
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Generalized limb muscle atrophy, Distichiasis, Delayed puberty, Myopathy ORPHA:2598
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Proximal muscle weakness, EMG: myopathic abnormalities, Increased variability in muscle fiber dia... ORPHA:397744
Coenzyme Q10 Deficiency, Primary, 1
Status epilepticus, Ataxia, Decreased level of coenzyme Q10 in skeletal muscle, Myoclonus, Progre... OMIM:607426
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:603511
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Flexion contracture, Short stature, Short neck,... OMIM:616549
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Cerebral atrophy, Scapular winging, Ragged-red muscle... ORPHA:254886
Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hemolytic anemia, Rhabdomyolysis, Muscle weakness, Seizure, Myopathy, Reticulocytosis, Er... OMIM:300653
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Chorea OMIM:618425
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Facial palsy,... ORPHA:98913
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Ulnar claw, Flexion contracture, Distal muscle weakness, Scoliosis, Foot dorsifl... OMIM:607684
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Episo... OMIM:618924
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Cerebral atrophy, Short stature, Campt... OMIM:618453
Idiopathic Camptocormia
Spinal canal stenosis, Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalit... ORPHA:1320
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, P... OMIM:619903
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Generalized myoclonic seizure, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased intram... OMIM:614487
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Scoliosis, Ophthalmoparesis, Arthrogryposis multiplex c... OMIM:608930
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, Bilateral ton... OMIM:619701
Hypophosphatasia, Childhood
Seizure, Myopathy, Craniosynostosis OMIM:241510
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Decrease... OMIM:613662
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Talipes equinovarus, Cerebral atrophy, Paucity of anterior horn motor ... OMIM:611890
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Cerebral cortical atrophy, Talipes equinovarus, Hand clenching, Flexion contracture, Co... OMIM:618291
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Adducted Thumbs Syndrome
Myopathy, Hypertrichosis, Myelin-dependent gliosis, Arthrogryposis multiplex congenita OMIM:201550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Generalized limb muscle atrophy, Progressive muscle weak... OMIM:600462
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Flexion contracture, Facial palsy, Skeletal muscle atrophy, Myopathy, Ophthalmoplegia OMIM:616313
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Sideroblastic anem... OMIM:613561
Ane Syndrome
Multiple joint contractures, Ulnar deviation of the hand, Kyphoscoliosis, Alopecia, Short stature... ORPHA:157954
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Congenital muscular torticollis, Bilateral tonic-clonic seizure, Seizure, Myoclonic ... OMIM:612621
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:616794
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilat... OMIM:617831
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Gliosis, Kyphoscoliosis, Brain atrophy, Flexion contracture, Joint ... OMIM:214150
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Endosteal Hyperostosis, Worth Type
Facial palsy, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bone morphology... ORPHA:2790
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Cerebral atrophy, Cerebellar atrophy OMIM:618369
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... OMIM:616139
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Cap Myopathy
Gowers sign, Abnormal muscle fiber morphology, Lumbar hyperlordosis, Thoracic scoliosis, Poor hea... ORPHA:171881
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... OMIM:611307
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Spinal rigidity, Flexion contracture, Skeletal muscle hypertrophy, ... OMIM:613327
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Truncal ataxia, Chorea, Seizure, Limb-girdle muscular dystr... ORPHA:369847
Leber Hereditary Optic Neuropathy
Mitochondrial respiratory chain defects, Myopathy ORPHA:104
Marinesco-Sjögren Syndrome
Abnormality of finger, Coxa valga, Severe short stature, Muscular dystrophy, Hip dysplasia, Avasc... ORPHA:559
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Dysmetria, Osteopenia, Myoclonic seizure, Bilateral tonic-clonic seizure, Gait at... OMIM:617810
Arts Syndrome
Progressive muscle weakness, Ataxia, Seizure OMIM:301835
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Macrocephaly, Aggressive behavior ORPHA:356996
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral to... ORPHA:330050
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... OMIM:601462
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Hypertrichosis, Low anterior hairline, Thick eyebrow, L... OMIM:618658
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy, Ataxia, Seizure ORPHA:772
Duchenne And Becker Muscular Dystrophy
Scoliosis, Slender long bone, Hyperlordosis, Hypertrophic cardiomyopathy, Skeletal muscle atrophy... ORPHA:262
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Sengers Syndrome
Growth delay, Hypertrophic cardiomyopathy, Muscle weakness, Myopathy OMIM:212350
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypertriglyceri... OMIM:616222
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Ataxia, Congenital diaphragmatic hernia, Seizure ORPHA:972
Myopathy, X-Linked, With Excessive Autophagy
Gowers sign, Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Skeletal mu... OMIM:310440
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure, Myopathy OMIM:618242
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure, Skeletal muscle atrophy, Impaired vibratory sensation ORPHA:100988
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Muscle weakness, Cerebellar ... OMIM:616239
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lumbar hyperlordosis, Muscular dystrophy, Lower limb muscle weakness, Muscle w... OMIM:615980
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Late-onset spinocerebellar degeneration, Myopathy OMIM:230450
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Generalized myoclonic seizure, Dysmetria, Distal muscle weakness, Myoclonus, Dysdiadochok... ORPHA:313772
Glycogen Storage Disease Iii
Short stature, Distal amyotrophy, Muscle weakness, Ventricular hypertrophy, Cardiomyopathy, Myopathy OMIM:232400
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Short stature, Skeletal muscle hypertrophy, Muscle weakness, Myopathy ORPHA:2349
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Bilateral tonic-clonic seizure, Decreased muscle glycogen content OMIM:611556
Lissencephaly 10
Torticollis, Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic se... OMIM:618873
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Talipes equinovarus, Axonal degeneration, Arthrogryposis-like hand anomaly, Distal muscle weaknes... OMIM:620011
Spinal muscular atrophy, type I, with congenital bone fractures
Hypertrichosis, Acute infantile spinal muscular atrophy, Flexion contracture, Arachnodactyly, Deg... OMIM:271225
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Defective DNA repair after ultraviolet radiation damage, Small for gestational age OMIM:278780
Dk1-Cdg
Infantile spasms, Progressive muscle weakness, Bilateral tonic-clonic seizure, Seizure, Focal-ons... ORPHA:91131
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Bilateral tonic-clonic seizure, Myopathy,... OMIM:540000
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic gird... ORPHA:119
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Intrauterine growth retardation, Cardiomyopathy, Myopathy ORPHA:26792
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... OMIM:156530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, We... OMIM:258450
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Gowers sign, Talipes equinovarus, Scapular winging, Type 1 muscle fiber predomin... OMIM:617336
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Cerebral cortical atrophy, ... ORPHA:370968
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Bilateral tonic-clonic seizure, Choreoa... OMIM:616230
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis, Fac... ORPHA:3152
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Striatonigral Degeneration, Infantile, Mitochondrial
Myoclonus, Ophthalmoparesis, Chorea, Ragged-red muscle fibers, Paroxysmal choreoathetosis OMIM:500003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Lumbar hyperlordosis, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, L... OMIM:613818
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Short neck, Increased variability in muscle fiber diameter, Scoliosis, Long ... OMIM:619026
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weaknes... OMIM:608807
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Fiber type grouping, Interosseus muscle atrophy, Mitochondrial... OMIM:500013
Acquired Partial Lipodystrophy
Lymphocytosis, Myopathy, Seizure ORPHA:79087
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pat... OMIM:616867
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Short stature, Anterior beaking of lumbar vertebrae, Platyspondyly, ... OMIM:230650
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Failure to thrive, Cerebral atrophy, Weakness of facial musculature, Increased v... OMIM:619461
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Nail dysplasia, Short stature, Muscular dystrophy, Increased variability... OMIM:226670
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Distal muscle weakness, Late-onset prox... OMIM:601419
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... OMIM:616470
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Small fo... OMIM:615368
Developmental And Epileptic Encephalopathy 6B
Ataxia, Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, C... OMIM:619317
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Axial Osteomalacia
Osteomalacia, Increased bone mineral density, Myopathy, Proximal muscle weakness OMIM:109130
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe,... OMIM:175700
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Dysmetria, Generalized amyotrophy, Gait ataxia OMIM:203740
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Decreased activity of mitochondrial complex... ORPHA:477774
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Pontocerebellar Hypoplasia, Type 14
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Chronic neutropenia, Focal-o... OMIM:619301
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal... OMIM:617519
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness, Skeletal muscle atrophy OMIM:252320
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebral atrophy, Small for gestational age, Arthrogryposis multiplex congenita, Cerebel... OMIM:615095
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Back pain, EMG: myopathic abnormalities, Rimmed v... ORPHA:329478
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Muscle weakness OMIM:105500
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia OMIM:125250
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ... ORPHA:382
Pontocerebellar Hypoplasia, Type 15
Infantile spasms, Myoclonic seizure, Chronic neutropenia, Bilateral tonic-clonic seizure, Focal-o... OMIM:619302
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Splenomegaly, Osteopenia, Myoclonus, Bilateral tonic-clonic s... OMIM:610539
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy OMIM:300219
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Muscle weakness ORPHA:247604
Glycerol Kinase Deficiency
Muscular dystrophy, Osteoporosis, Myopathy, Seizure OMIM:307030
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, ... OMIM:614018
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis mu... OMIM:608931
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Dysmetria, Osteopenia, Osteoporosis, Bilateral tonic-clonic seizure, Gait ata... ORPHA:529665
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Brain atrophy, Myopathy OMIM:618236
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus OMIM:612526
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Poor head control, Focal impaired awareness seizure, Flexion contracture, Scapul... OMIM:617468
Carnitine Deficiency, Systemic Primary
Failure to thrive, Reduced muscle carnitine level, Cardiomegaly, Endocardial fibroelastosis, Decr... OMIM:212140
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Roc... OMIM:618393
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Progressive muscle weakness, Limb muscle weakness, Seizure,... OMIM:610131
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Muscle weakness, ... OMIM:616052
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly ORPHA:139406
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Chorea, Bilateral tonic-clonic seizure, Choreoathetosis, Mul... OMIM:616981
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Poor head control, Talipes equinovarus, Right ventricular hypertrophy, Type... ORPHA:98915
Myopathy With Lactic Acidosis, Hereditary
Abnormal iron deposition in mitochondria, Increased intramyocellular lipid droplets, Rhabdomyolys... OMIM:255125
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Progressive intervertebral space narrowing, Skeletal muscle atrophy, Pr... ORPHA:480
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Machado-Joseph Disease Type 3
Supranuclear ophthalmoplegia, Distal muscle weakness, Degeneration of anterior horn cells, Progre... ORPHA:276244
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclon... ORPHA:36387
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Microcephaly, Emotional lability OMIM:309585
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Decreased a... OMIM:615418
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils, Myopathy ORPHA:154
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... OMIM:606842
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Degeneration of anterior horn cells, Distal amyotrophy, Perone... OMIM:118301
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Osteolysis, Abnormal cortical bone morphology,... ORPHA:970
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Glutamate-Cysteine Ligase Deficiency
Ataxia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Myopathy ORPHA:33574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Short stature, EMG: myo... OMIM:608840
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decr... OMIM:614924
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... OMIM:619605
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Increased mitochondrial number, EMG: myopathic abnormalities, Foot dorsifl... ORPHA:263297
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Gliosis OMIM:225753
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Frontal cortical atrophy, Calf muscle hypertrophy, Scapu... ORPHA:206559
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal muscle weakness, EMG: myopathic abnormalities, Lower limb muscle weakness, Distal amyotrop... ORPHA:99939
Sarcosinemia
Peroneal muscle weakness, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Proximal muscle weakness, Poor head control, Severe short statur... ORPHA:3208
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Kyphosis, Skeletal muscle atrophy, Scoliosis ORPHA:101078
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:618856
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Type 2 muscl... OMIM:619028
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Short stature, Distal muscle weakness, Scoliosis, Foot dorsiflexor weakness, Split hand... OMIM:618124
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003