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 |
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Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Myopathy, Myosin Storage, Autosomal Dominant |
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EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Central Core Disease Of Muscle |
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Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Spinal Muscular Atrophy, Type Iv |
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Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Myofiber dis... |
OMIM:301075 |
Tibial Muscular Dystrophy |
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Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... |
OMIM:608423 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Gne Myopathy |
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EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Myopathy, Scapulohumeroperoneal |
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Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Salih Myopathy |
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Flexion contracture, Mitochondrial depletion, Calf muscle hypertrophy, Scoliosis, Dilated cardiom... |
OMIM:611705 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
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Short stature, Proximal muscle weakness in lower limbs, Neck flexor weakness, Ragged-red muscle f... |
OMIM:616209 |
Rigid Spine Muscular Dystrophy 1 |
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Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Spinal rigidity... |
OMIM:602771 |
Myopathy, Centronuclear, 2 |
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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 |
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Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Myopathy, Myofibrillar, 4 |
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Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... |
OMIM:609452 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Ataxia, Generalized myoclonic seizure, Myoclonus, Ragged-red muscle fibers, Muscle weakness, Seiz... |
OMIM:545000 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... |
OMIM:618484 |
Myopathy, Centronuclear, 1 |
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Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Myopathy, Myofibrillar, 3 |
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Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Proximal muscle weakness, Achilles tend... |
OMIM:609200 |
Polyglucosan Body Myopathy 2 |
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Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... |
OMIM:616199 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Gowers sign, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Left ventricular hypertrop... |
ORPHA:86812 |
Myofibrillar Myopathy 11 |
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Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... |
OMIM:619178 |
Myopathy, Congenital, With Fiber-Type Disproportion |
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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 |
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Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... |
OMIM:167320 |
Tubular Aggregate Myopathy |
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EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Distal Myopathy, Welander Type |
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Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... |
ORPHA:603 |
Distal Nebulin Myopathy |
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Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Weakness of ... |
ORPHA:399103 |
Bethlem Myopathy 2 |
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Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... |
OMIM:616471 |
Multiminicore Myopathy |
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Failure to thrive, Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morpho... |
ORPHA:598 |
Inclusion Body Myositis |
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Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Mitochondrial Myopathy With Diabetes |
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EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Dec... |
OMIM:500002 |
Hereditary Myopathy With Early Respiratory Failure |
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Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Distal Myopathy With Anterior Tibial Onset |
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Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... |
ORPHA:178400 |
Spinal Muscular Atrophy, Infantile, James Type |
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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 |
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Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Finnish Upper Limb-Onset Distal Myopathy |
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Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... |
ORPHA:399086 |
Nemaline Myopathy 2 |
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Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... |
OMIM:256030 |
Muscular Dystrophy, Congenital, Merosin-Positive |
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Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
Myopathy, Distal, With Rimmed Vacuoles |
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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 |
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Muscle fiber atrophy, Rimmed vacuoles, Paget disease of bone, Myositis, Muscle weakness, Centrall... |
OMIM:615422 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... |
OMIM:618655 |
Vacuolar Neuromyopathy |
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Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... |
OMIM:601846 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number, Short stature, Proximal muscle weakness in lower limbs, Weakness ... |
ORPHA:457050 |
Laing Early-Onset Distal Myopathy |
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Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Myopathy, Myosin Storage, Autosomal Recessive |
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Proximal muscle weakness, Thoracic scoliosis, Short stature, Calf muscle hypertrophy, EMG: myopat... |
OMIM:255160 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Hamstring contractures, Proximal muscle weakness, Back pain, Spinal rigidity, Skeletal muscle hyp... |
OMIM:300696 |
Myopathy, Distal, 5 |
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Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... |
OMIM:300718 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Multiple joint contractures, Poor head control, Spinal rigidity, EMG: myopathic abnormalities, Mi... |
ORPHA:486815 |
Nonaka Myopathy |
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EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Distal amyotrophy, Deposit... |
OMIM:605820 |
Myopathy, Distal, 4 |
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Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... |
OMIM:614065 |
Nemaline Myopathy 6 |
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Nemaline bodies, Limb muscle weakness, Myopathy, Neck flexor weakness |
OMIM:609273 |
Spinal Muscular Atrophy, Type Iii |
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Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... |
OMIM:253400 |
Bethlem Myopathy 1 |
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Torticollis, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Distal m... |
OMIM:158810 |
Nemaline Myopathy 5 |
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Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... |
OMIM:605355 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Somatic sensory dysfunction, Pr... |
OMIM:158600 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... |
ORPHA:266 |
Congenital Myopathy With Myasthenic-Like Onset |
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Multiple joint contractures, Failure to thrive, Respiratory insufficiency due to muscle weakness,... |
ORPHA:424107 |
Marinesco-Sjogren Syndrome |
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Failure to thrive, Kyphosis, Coxa valga, Short metacarpal, Flexion contracture, Short stature, Ri... |
OMIM:248800 |
Amish Nemaline Myopathy |
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Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... |
ORPHA:98902 |
Minicore Myopathy With External Ophthalmoplegia |
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Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Coronary Artery Disease, Autosomal Dominant 2 |
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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 |
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Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
Nemaline Myopathy 7 |
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Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Gowers sign, Weakness of facial musculatur... |
OMIM:610687 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Brain atrophy, Short stature, Weakness of muscles of respiration, ... |
ORPHA:52430 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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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 |
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Failure to thrive, Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Short stature, Wea... |
OMIM:619542 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Distal upper limb muscle weakness, Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle ... |
OMIM:619566 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... |
OMIM:613204 |
Congenital Muscular Dystrophy, Ullrich Type |
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Increased endomysial connective tissue, Slender finger, Increased variability in muscle fiber dia... |
ORPHA:75840 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
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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 |
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Distal muscle weakness, Scoliosis, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck ... |
OMIM:605637 |
Klhl9-Related Early-Onset Distal Myopathy |
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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 |
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Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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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 |
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Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Hypertriglyceridemia 2 |
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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 |
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Status epilepticus, Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclon... |
ORPHA:36387 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
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Obesity, Microcephaly, Emotional lability |
OMIM:309585 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
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Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Decreased a... |
OMIM:615418 |
Familial Isolated Dilated Cardiomyopathy |
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Abnormality of neutrophils, Myopathy |
ORPHA:154 |
Female Restricted Epilepsy With Intellectual Disability |
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Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
Melorheostosis With Osteopoikilosis |
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Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
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Peroneal muscle weakness, Gliosis, Degeneration of anterior horn cells, Distal amyotrophy, Perone... |
OMIM:118301 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Reduced bone mineral density, Foot acroosteolysis, Osteolysis, Abnormal cortical bone morphology,... |
ORPHA:970 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
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Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Glycogen Storage Disease Ixa1 |
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Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Glutamate-Cysteine Ligase Deficiency |
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Ataxia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Myopathy |
ORPHA:33574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
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Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Short stature, EMG: myo... |
OMIM:608840 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Failure to thrive, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decr... |
OMIM:614924 |
Developmental And Epileptic Encephalopathy 98 |
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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 |
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Decreased muscle mass, Increased mitochondrial number, EMG: myopathic abnormalities, Foot dorsifl... |
ORPHA:263297 |
Lipodystrophy, Familial Partial, Type 4 |
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Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
Pontocerebellar Hypoplasia, Type 4 |
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Congenital contracture, Gliosis |
OMIM:225753 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
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Reduced muscle fiber alpha dystroglycan, Frontal cortical atrophy, Calf muscle hypertrophy, Scapu... |
ORPHA:206559 |
Epilepsy, Familial Adult Myoclonic, 1 |
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Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
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Distal muscle weakness, EMG: myopathic abnormalities, Lower limb muscle weakness, Distal amyotrop... |
ORPHA:99939 |
Sarcosinemia |
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Peroneal muscle weakness, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Isolated Succinate-Coq Reductase Deficiency |
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Intrauterine growth retardation, Proximal muscle weakness, Poor head control, Severe short statur... |
ORPHA:3208 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Distal muscle weakness, Kyphosis, Skeletal muscle atrophy, Scoliosis |
ORPHA:101078 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
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Bilateral tonic-clonic seizure |
OMIM:269720 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizur... |
OMIM:618856 |
Coenzyme Q10 Deficiency, Primary, 9 |
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Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Type 2 muscl... |
OMIM:619028 |
Epilepsy, Myoclonic Juvenile |
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Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
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Kyphosis, Short stature, Distal muscle weakness, Scoliosis, Foot dorsiflexor weakness, Split hand... |
OMIM:618124 |
Lipodystrophy, Familial Partial, Type 3 |
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Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Developmental And Epileptic Encephalopathy 30 |
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Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |