Scapuloperoneal myopathy, myh7-related |
|
Weakness of facial musculature, Scapuloperoneal myopathy, EMG: myopathic abnormalities, Myopathy |
OMIM:181430 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... |
OMIM:617030 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Tubular Aggregate Myopathy |
|
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... |
OMIM:609115 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... |
OMIM:615424 |
Polyglucosan Body Myopathy 2 |
|
Shoulder girdle muscle weakness, Difficulty walking, Hand muscle weakness, Pelvic girdle amyotrop... |
OMIM:616199 |
Nonaka Myopathy |
|
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... |
OMIM:605820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... |
ORPHA:611 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... |
OMIM:617158 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Myopathy |
OMIM:208100 |
Nemaline Myopathy 6 |
|
Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy |
OMIM:609273 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Gait disturbance, Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Proxi... |
OMIM:618655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... |
OMIM:608423 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... |
OMIM:158600 |
Myopathy, Distal, Tateyama Type |
|
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:614321 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Weakness of orbicularis oculi muscle, Ataxia, Difficulty walking, Neck muscl... |
OMIM:500002 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Spinal Muscular Atrophy, Type Iv |
|
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... |
OMIM:271150 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Gne Myopathy |
|
Steppage gait, Muscle weakness, Quadriceps muscle weakness, Rimmed vacuoles, Hypothyroidism, Shou... |
ORPHA:602 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Myopathy, EMG: myopathic abnormalities, Distal upper limb amyotrop... |
ORPHA:603 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: myopathic abnorm... |
ORPHA:609 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... |
OMIM:301075 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... |
OMIM:619733 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... |
OMIM:618129 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... |
OMIM:601846 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Shoul... |
ORPHA:45448 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609524 |
Hereditary Myopathy With Early Respiratory Failure |
|
Gait disturbance, Neck flexor weakness, Muscle fiber splitting, Falls, Type 1 muscle fiber predom... |
ORPHA:178464 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Falls, Proximal muscle weakness, Fatty replacement of sk... |
OMIM:618848 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... |
OMIM:612999 |
Myopathy, Myofibrillar, 3 |
|
Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myof... |
OMIM:609200 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Myopathy, Centronuclear, 1 |
|
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... |
OMIM:160150 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... |
OMIM:617760 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... |
OMIM:614065 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Z-band... |
OMIM:618823 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... |
OMIM:117000 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... |
OMIM:608358 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy |
ORPHA:270 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... |
OMIM:619178 |
Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... |
OMIM:616852 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Difficulty walking, Distal... |
OMIM:601954 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Inability to walk, Shoulder girdle muscle weakness, Autophagic vacuoles, Reduced maximal inspirat... |
ORPHA:266 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance, Difficulty walking, Muscle weakness |
OMIM:616304 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Congenital Myopathy 18 |
|
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... |
OMIM:620246 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Scapuloperoneal weakness, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of fa... |
OMIM:181400 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive proximal muscle weakness, Autophagic vacuoles, Facial diplegia, Difficulty walking, R... |
ORPHA:399058 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... |
ORPHA:34516 |
Bethlem Myopathy 1 |
|
Camptodactyly of finger, Torticollis, Myopathy, Skeletal muscle atrophy, Congenital muscular tort... |
OMIM:158810 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... |
OMIM:615422 |
Myasthenic Syndrome, Congenital, 14 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... |
OMIM:616228 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... |
OMIM:618940 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Poor head control, Respiratory insuffici... |
OMIM:300717 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Fiber type grouping |
OMIM:614369 |
Distal Myopathy With Anterior Tibial Onset |
|
Progressive proximal muscle weakness, Intrinsic hand muscle atrophy, Neck muscle weakness, Finger... |
ORPHA:178400 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Unsteady gait, Gowers sign, EMG: myopathic abnormalities, Proximal muscle weakness, Scapular wing... |
OMIM:608099 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Distal muscle we... |
OMIM:619042 |
Nemaline Myopathy 2 |
|
Bulbar palsy, Inability to walk, Slender build, Late-onset distal muscle weakness, Type 1 muscle ... |
OMIM:256030 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Unsteady gait, Myopathy, Gowers sign, Proximal muscle weakness, Muscle weakness, Limb-girdle musc... |
OMIM:612937 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facial musculature, Proximal m... |
OMIM:619477 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... |
OMIM:611705 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Torticollis, Gowers sign, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscle w... |
OMIM:613204 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Myopathy, Neck muscle weakness, Type 1 muscle fiber predominance, Proximal muscle weakness, Scapu... |
OMIM:605637 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Facial palsy, Proximal muscle weakness in lower limbs, Neck flexor weakness, Ragged-red muscle fi... |
OMIM:616209 |
Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Neck muscle weakness, Gowers sign, Ophthalmoparesis, Proximal muscle weaknes... |
OMIM:610542 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Shoulder flexio... |
OMIM:605355 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Neck muscle weakness, Gowers sign, Myof... |
ORPHA:97240 |
Congenital Myopathy 14 |
|
Axial muscle weakness, Neck muscle weakness, Type 1 muscle fiber predominance, Weakness of facial... |
OMIM:618414 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Tip-toe gait, Distal muscle we... |
OMIM:254130 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers |
OMIM:609283 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, Loss of ambulation, EMG: myo... |
OMIM:253601 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... |
ORPHA:86812 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Diabetes mellitus, Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Myopathy, Distal, 1 |
|
Tibialis anterior muscle atrophy, Gait disturbance, Distal lower limb muscle weakness, Neck muscl... |
OMIM:160500 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Congenital Myopathy 8 |
|
Weak extraocular muscles, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscl... |
OMIM:618654 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... |
OMIM:617072 |
Creatine Phosphokinase, Elevated Serum |
|
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... |
OMIM:123320 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities,... |
ORPHA:399081 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Unsteady gait, Gowers sign, Limb-girdle muscular dystrop... |
ORPHA:280333 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy |
OMIM:616471 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... |
OMIM:620068 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Decreased muscle mass, Myopathy |
OMIM:607091 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Neck flexor weakness, Distal lower limb muscle weakness,... |
ORPHA:457050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Neck muscle weakness,... |
OMIM:619566 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy, Distal upper limb ... |
ORPHA:178145 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... |
OMIM:608807 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... |
OMIM:160565 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness... |
OMIM:619216 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... |
OMIM:616313 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Diaphragmatic weakness, Shoulder girdle muscle weakness, Muscle fiber splitting, Difficulty walki... |
OMIM:603689 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab... |
OMIM:611307 |
Congenital Myopathy 23 |
|
Facial diplegia, Difficulty walking, Neck muscle weakness, Type 1 muscle fiber predominance, Gowe... |
OMIM:609285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... |
OMIM:616924 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Gowers sign, Proximal muscle weakness, Increased variability in muscle f... |
OMIM:611615 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapuloperoneal weakness, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypert... |
OMIM:300696 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Inability to walk, Gait disturbance, Intrinsic hand musc... |
ORPHA:276435 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... |
OMIM:617066 |
Distal Nebulin Myopathy |
|
Slender build, Neck flexor weakness, Sternocleidomastoid amyotrophy, Progressive proximal muscle ... |
ORPHA:399103 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... |
OMIM:300695 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Rhabdomyolysis, Minicore myopathy, Myopathy, Type 1 muscle fiber predominance, EMG: myopathic abn... |
ORPHA:424107 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... |
OMIM:620138 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Respiratory insufficiency d... |
ORPHA:598 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Shoulder girdle muscle weakness, Muscle fiber splitting, Gowers sign, Muscular dyst... |
OMIM:603511 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive proximal muscle weakness, Intrinsic hand muscle atrophy, Difficulty walking, Steppage... |
ORPHA:399086 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscl... |
ORPHA:488650 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, Steppage gait, EMG: myopathic abnormalities, Distal muscle... |
OMIM:610099 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Proximal lower limb a... |
OMIM:310440 |
Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen... |
OMIM:300559 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... |
OMIM:255320 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... |
ORPHA:206549 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Neck muscle weakness, Distal amyotrophy, Weakness of facial musculature, Increased endomy... |
OMIM:619473 |
Distal Myotilinopathy |
|
Progressive proximal muscle weakness, Difficulty walking, Abnormal muscle fiber myotilin, Distal ... |
ORPHA:98911 |
Congenital Myopathy 3 With Rigid Spine |
|
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... |
OMIM:602771 |
Nemaline Myopathy 7 |
|
Minicore myopathy, Shoulder girdle muscle weakness, Gait disturbance, Neck muscle weakness, Gower... |
OMIM:610687 |
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... |
ORPHA:437572 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Pr... |
OMIM:617069 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... |
ORPHA:171442 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Respiratory insufficiency due to muscle ... |
OMIM:300718 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Neck flexor weakness, Gowers sign, Proximal muscle weakn... |
OMIM:618138 |
Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Neck muscle weakness, Respiratory insufficiency due to muscle weakness, Increased m... |
OMIM:500009 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Myo... |
OMIM:300580 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Gait disturbance, Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Myopathy... |
OMIM:167320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... |
OMIM:616812 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Facial diplegia, Distal lower limb muscle weakness, Shoulder girdle... |
OMIM:609284 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Neck flexor weakness, Gowers sign, Tip-toe gait, EMG: myopathic abnormalities, Righ... |
ORPHA:353 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr... |
ORPHA:486815 |
Myopathy, Myofibrillar, 2 |
|
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Neck muscle weakne... |
OMIM:608810 |
Sandhoff Disease, Adult Form |
|
Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait ataxia, Muscle fiber at... |
ORPHA:309169 |
Nemaline Myopathy 8 |
|
Flexion contracture, Facial palsy, Myofibrillar myopathy, Nemaline bodies |
OMIM:615348 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Weakness of facial musculature, Flexion contracture of finger, Increased endomysial connective ti... |
OMIM:618484 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Gowers sign, Type 1 muscle fiber predominance, Muscular dystrophy, Skelet... |
OMIM:253700 |
Laing Early-Onset Distal Myopathy |
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Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... |
ORPHA:59135 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Inability to walk, Ataxia, Type 1 muscle fiber predominance, Respiratory insufficiency due to mus... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotro... |
OMIM:608340 |
Childhood-Onset Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Slender build, Facial diplegia, Myopathy, Difficulty walking,... |
ORPHA:171439 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Lower limb muscle weakness, Hypoglycosylation of alpha-dystroglycan, Loss of ambula... |
OMIM:616052 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Generalized amyotrophy, Myopathy |
OMIM:618323 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathi... |
OMIM:255160 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle we... |
OMIM:617070 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Proximal ... |
OMIM:614302 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... |
OMIM:300816 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy... |
OMIM:619903 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Congenital Myopathy 10A, Severe Variant |
|
Diaphragmatic weakness, Camptodactyly of finger, Poor head control, Diaphragmatic paralysis, EMG:... |
OMIM:614399 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Poor head control, Difficulty walking, Myopathy, Gowers sign, Type 1 muscle fiber predominance, K... |
ORPHA:353327 |
Rigid Spine Syndrome |
|
Myopathy, Hamstring contractures, Skeletal muscle atrophy, Hip contracture, Elbow flexion contrac... |
ORPHA:97244 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nucleated skeletal mus... |
ORPHA:596 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder fle... |
ORPHA:98902 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy |
OMIM:615511 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Gait disturbance, Distal lower limb muscle weakness, Lower limb muscle weakness, Distal amyotroph... |
OMIM:607684 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
Myopathy, Centronuclear, 2 |
|
EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle... |
OMIM:255200 |
Central Core Disease |
|
Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Nemaline bodie... |
ORPHA:597 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Difficulty walking, Lower limb muscle weakness, Type 1 m... |
OMIM:613954 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
Myasthenic Syndrome, Congenital, 5 |
|
Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, L... |
OMIM:603034 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Unsteady gait, Difficulty walking, Gowers sign, Muscular dystrophy, Hypoglycosylation of alpha-dy... |
OMIM:613818 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness, Increased... |
OMIM:613157 |
Glycogen Storage Disease X |
|
Rhabdomyolysis, Myopathy |
OMIM:261670 |
Bethlem Myopathy |
|
Camptodactyly of finger, Reduced muscle collagen VI, Progressive proximal muscle weakness, Achill... |
ORPHA:610 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Difficulty walking, Central core regions in muscle fibers, Proximal muscle weakness, Cent... |
ORPHA:401768 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Failure... |
OMIM:255310 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Ataxia, Increased variab... |
OMIM:619065 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Diaphragmatic weakness, Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abno... |
ORPHA:75840 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscular dystrophy, Abn... |
ORPHA:34515 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, External ophth... |
OMIM:619790 |
Congenital Myopathy 15 |
|
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... |
OMIM:620161 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Difficulty walking, Myopathy, Gowers sign, Pelvic girdle muscle weakness, Waddling gait, Increase... |
ORPHA:119 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Slender build, Neck flexor weakness, Late-onset distal muscle weakness, Type 1 musc... |
OMIM:161800 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Diaphragmatic weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness... |
OMIM:601462 |
Nemaline Myopathy 10 |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Nemaline... |
OMIM:616165 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Muscle weakness, Congenital muscular dystrophy,... |
OMIM:607855 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Myopathy, Increased muscle glycogen content, Increased muscle lipid content, Ragged... |
ORPHA:254864 |
Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
Dpm3-Cdg |
|
Muscular dystrophy, Muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Calf muscle ... |
ORPHA:263494 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Proximal amyotrophy, Weakness of orbicularis oculi muscle, Shoulder... |
ORPHA:2596 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... |
ORPHA:98905 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Kne... |
OMIM:310300 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Inability to walk, Facial diplegia, Gowers sign, Respiratory insufficiency due to muscle weakness... |
OMIM:609560 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Limb muscle weakness, Type 2 muscle fiber atrophy, Myopathy |
OMIM:605809 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce... |
OMIM:154275 |
Myopathy, Centronuclear, 5 |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Hip contracture |
OMIM:615959 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Neck muscle weakness, Gowers sign, Weakness of facial musculature, Respiratory insu... |
OMIM:608930 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, EMG: myopathic abnorma... |
ORPHA:169189 |
Kearns-Sayre Syndrome |
|
Ataxia, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Anterior hypopituitarism, ... |
ORPHA:480 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Poor head control, Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:613752 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Progressive external ophthalmoplegia, Cachexia, Muscle weakness, Generaliz... |
OMIM:613662 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy |
ORPHA:352470 |
King-Denborough Syndrome |
|
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... |
OMIM:619542 |
Distal Anoctaminopathy |
|
Rhabdomyolysis, Peroneal muscle atrophy, Difficulty walking, Distal lower limb muscle weakness, D... |
ORPHA:399096 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, Difficulty walking... |
ORPHA:370980 |
Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Central... |
OMIM:606070 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis |
OMIM:615159 |
Congenital Myopathy 24 |
|
Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, Facial palsy, M... |
OMIM:617336 |
Myopathy, Myofibrillar, 8 |
|
Joint contracture of the 5th finger, Central core regions in muscle fibers, Nemaline bodies, Scap... |
OMIM:617258 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, F... |
OMIM:248800 |
Myopathy, Myofibrillar, 7 |
|
Difficulty walking, Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Should... |
OMIM:617114 |
Hypokalemic Periodic Paralysis |
|
Fatigable weakness of respiratory muscles, Episodic flaccid weakness, Adrenocortical adenoma, Pos... |
ORPHA:681 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Alcohol-induce... |
OMIM:154276 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Proximal muscle weakness in lower limbs, Hypoglycosylation of alpha-dystroglycan, S... |
ORPHA:352479 |
Cap Myopathy |
|
Lower limb amyotrophy, Poor head control, Fatiguable weakness of proximal limb muscles, Lower lim... |
ORPHA:171881 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Gait disturbance, Unsteady gait, Ataxia, Broad-based gait, Lower limb muscle weakness, Difficulty... |
OMIM:616479 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Skeletal muscle hypertrophy, Myopathy |
ORPHA:2349 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Inability to walk, Difficulty walki... |
ORPHA:206559 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Inability to walk, Ataxia, Increased variability in muscle fiber diameter |
OMIM:617915 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Scapular winging... |
ORPHA:169186 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Spinal muscular atrophy, Myopathy, Facial palsy, Flexion contracture, Arthrogryposis multiplex co... |
OMIM:301830 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Generalized muscle weakness, Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:614096 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myopathy |
OMIM:201550 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Progressive proximal muscle weakness, Progressive externa... |
ORPHA:663 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Diaphragmatic weakness, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, Gowers sign... |
OMIM:181405 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Spinal muscular atrophy, Weakness of facial musculature, Inflammatory myopathy, Knee flexion cont... |
ORPHA:1145 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Ataxia, Weakness of facial musculature, Proximal muscle weakness, Choreoathetosis... |
OMIM:618416 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, ... |
ORPHA:206546 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Gowers sign, Skeletal mu... |
OMIM:608931 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Generalized limb muscle atrophy, Myopathy |
ORPHA:2598 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression, Muscle weakness |
ORPHA:330054 |
Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Tip-toe gait, Pr... |
ORPHA:536516 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Slender build, Type 1 muscle fiber predominance, Respira... |
OMIM:254090 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy |
ORPHA:91130 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Increased endomysial connective tissue, Muscular dystrophy, Myopathy |
OMIM:602541 |
Duchenne And Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:262 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Myopathy, Increased variability in muscle fiber diameter, Ophthalmoplegia |
OMIM:125250 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Fatty replacement of skeletal... |
ORPHA:397744 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Ankle weakness, Fatigable weakness of respiratory muscles, Shoulder girdle muscle weakness, Neck ... |
ORPHA:98913 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hype... |
OMIM:609308 |
Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Myopathy |
OMIM:610717 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Poor head control, Distal amyotrophy, Facial palsy, Type 2 muscle fiber atrophy, Type 1 muscle fi... |
OMIM:617519 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, S... |
ORPHA:57 |
Typical Nemaline Myopathy |
|
Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Gait dis... |
ORPHA:171436 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Difficulty walking, Type 1 muscle fiber predominance, Skeletal muscle atrophy, E... |
ORPHA:171433 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Muscle weak... |
OMIM:616867 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Paroxysmal choreoathetosis, Ophthalmoparesis, Difficulty walking, Ragged-red muscle fibers |
OMIM:500003 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Muscle weakness, Ragged-red muscle fibers |
OMIM:616794 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Classic Multiminicore Myopathy |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Poor head control, Abs... |
ORPHA:324604 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Weakness of facial musculature, Steppage gait, Muscle fiber atrophy, Skeletal muscle... |
OMIM:258450 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy |
OMIM:618237 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Fiber type grouping, Plantar flexion contracture, Wrist drop, Distal arthrogryposis, Arthrogrypos... |
OMIM:620011 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Gowers sign, Muscular dystrophy, Skeletal muscle atrophy, Proximal muscle weakness, Flexion contr... |
OMIM:613723 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, EMG: myopathic abnorm... |
ORPHA:206569 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Achi... |
OMIM:608840 |
Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:616470 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the calf musculature, Bulbar palsy, Ankle weakness, Shoulder girdle muscle weaknes... |
ORPHA:600 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsi... |
OMIM:619574 |
Congenital Myopathy 16 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging |
OMIM:618524 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Type 2 muscle f... |
OMIM:254210 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Progressive muscle weakness, Gowers sign, Muscular dystrophy, Peroneal muscle weakness, Skeletal ... |
OMIM:611588 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Congenital contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615368 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Failure to thrive, Inc... |
OMIM:617228 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Failure to thrive, Muscle weakness, Generalized... |
OMIM:613561 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle muscle weakness, Myopathy |
OMIM:615156 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy |
OMIM:540000 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Spinocerebellar Ataxia 28 |
|
Limb ataxia, Ophthalmoparesis, Gait ataxia, Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98855 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Facial palsy, Ragged-red ... |
ORPHA:254886 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Abnormality of the musculature of the lower limbs, Facial diplegia, Intrinsic hand muscle atrophy... |
ORPHA:329478 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Myopathy, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, F... |
ORPHA:272 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, ... |
ORPHA:178148 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Abnormality of the thyroid gland, Hypogonadism, Progressive muscle weakness, Di... |
OMIM:609286 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Weakness of muscles of respiration, EMG: myopathic abnormalities, Proximal muscle weakness, Fatty... |
ORPHA:52430 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy |
ORPHA:26792 |
Myopathy, Myofibrillar, 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Knee flexion contracture, Myofibrillar myopathy, ... |
OMIM:612954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Poor head control, Inability to walk, Ataxia, Muscular dystrophy, Hypoglycosylation of alpha-dyst... |
OMIM:615350 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Ataxia, Left ventricular noncompaction, Muscle weakness, ... |
OMIM:252011 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Myopathy |
OMIM:615980 |
Glycogen Storage Disease Iii |
|
Distal amyotrophy, Myopathy |
OMIM:232400 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Distal lower limb muscle weakness, Proximal upper limb muscle hypertrophy, Decreased cervical spi... |
ORPHA:254361 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Lower limb muscle weakness, Upper limb muscle weakness, EMG: myopathic abnormalities, Distal amyo... |
ORPHA:99939 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle weakness, Broad-based gait, Dysmetria, Fiber type grouping, Myopathy, Ataxia, Weakness of ... |
OMIM:607459 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Increased variability in muscle fiber diameter |
OMIM:617235 |
Myopathy With Lactic Acidosis, Hereditary |
|
Rhabdomyolysis, Difficulty walking, Myopathy, Skeletal muscle atrophy, Ophthalmoparesis, Distal m... |
OMIM:255125 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Dysmetria, Ataxia, Impaired tandem gait |
OMIM:619028 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fi... |
OMIM:619334 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Absent muscle fiber emerin, ... |
ORPHA:98853 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Poor head control, Type 1 muscle fiber predominance, Failure to thrive, Type 2 muscle fiber atrop... |
ORPHA:319514 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy |
OMIM:618234 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Rhabdomyolysis, Testicular atrophy, Progressive muscle weakness, Neck flexor weakness, Progressiv... |
OMIM:157640 |
Lethal Congenital Contracture Syndrome 9 |
|
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... |
OMIM:616503 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:261102 |
Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Myopathy |
OMIM:300653 |
Myopathy, Mitochondrial, And Ataxia |
|
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Distal amyotrophy, Increased circulat... |
OMIM:617675 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Fiber type grouping, Distal amyotrophy, Loss of ambulation, Athetosis, Hypergonadotropic ... |
OMIM:271245 |
Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Distal muscle weakness, Facial palsy, ... |
OMIM:616720 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Weakness of facial musculature, Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy |
ORPHA:254875 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Inability to walk, Neck flexor weakness, Retrocollis, Ataxia, Distal amyotrophy, Difficulty walki... |
ORPHA:300605 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Distal amyotrophy, Difficulty walking, Respiratory insufficiency due... |
OMIM:164310 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, Nemaline bodies, Myopathy |
OMIM:616549 |
Spastic Paraplegia Type 7 |
|
Lower limb muscle weakness, Upper limb muscle weakness, Lower limb hypertonia, Spastic gait, Ragg... |
ORPHA:99013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atroph... |
OMIM:606612 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Gait disturbance, Ataxia, Progressive external ophthalmoplegia, Ophthalmoparesis, Muscle weakness... |
ORPHA:1349 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Flexion contracture, Failure to thrive in infancy, External ophthalmoplegia, Increased variabilit... |
OMIM:619026 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Fiber type grouping, Distal lower limb muscle weakness, Difficulty ... |
OMIM:500013 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... |
OMIM:615418 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Myopathy, Muscular dystrophy, Muscle fiber atrophy, Proximal muscle weakness,... |
ORPHA:369840 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Myopathy, Diabetes mellitus, Skeletal muscle hypertrophy, Calf muscle pseudohy... |
ORPHA:79083 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Generalized amyotrophy, Ragged-red muscle fibers, Myopathy |
ORPHA:352447 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial... |
OMIM:615084 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... |
OMIM:619040 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Knee flexion co... |
OMIM:619461 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Progressive cerebellar ataxia, Difficulty walking, Increased circulating prolactin concentration,... |
ORPHA:502423 |
Neutral Lipid Storage Myopathy |
|
Shoulder girdle muscle weakness, Difficulty walking, Myopathy, Hand muscle weakness, Diabetes mel... |
ORPHA:98908 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Muscle fiber atrophy, Muscle weaknes... |
OMIM:616866 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergonadotropic h... |
OMIM:606407 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Diabetes mellitus, Skeletal muscle hypertrophy, Insulin resistance, Abnormality of skel... |
ORPHA:2348 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Hyperinsulinemia, Proximal muscle weakness, Fail... |
OMIM:613327 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Hypopituitarism, Progressive muscle weakness, Gowers sign, Scapular winging, Fai... |
OMIM:600462 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, EMG: myopathic abnormalities |
OMIM:601419 |
Kearns-Sayre Syndrome |
|
Ataxia, Diabetes mellitus, Hypoparathyroidism, Progressive external ophthalmoplegia, Muscle weakn... |
OMIM:530000 |
Myotonic Dystrophy 2 |
|
Neck flexor weakness, Sternocleidomastoid amyotrophy, Hypogonadism, Weakness of facial musculatur... |
OMIM:602668 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Bulbar palsy, Poor hea... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Bulbar palsy, Poor hea... |
ORPHA:98914 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Neuronopathy, Distal Hereditary Motor, Type X |
|
Small thenar eminence, Fiber type grouping, Distal lower limb muscle weakness, Scapular winging, ... |
OMIM:620080 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, External ophthalmoplegia, Hypergonadotropic hypogonadism, Distal... |
ORPHA:298 |
Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Flexion contracture, Muscle fiber atrophy, Failure to thrive |
OMIM:620240 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Myopathy |
ORPHA:369847 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Myopathy |
ORPHA:713 |
Optic Atrophy 11 |
|
Ataxia, Fiber type grouping, Facial diplegia, Gait apraxia, Athetosis, Increased variability in m... |
OMIM:617302 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Poor head control, Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:615595 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy |
OMIM:616239 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
Sengers Syndrome |
|
Myopathy |
OMIM:212350 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Camptodactyly of toe, Hyperglycemia, Joint contracture of the hand |
OMIM:175700 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Ophthalmoparesis, Abnormal muscle fiber morphology, Facial palsy, Hypogo... |
ORPHA:3068 |
Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
Synaptic Congenital Myasthenic Syndromes |
|
Poor head control, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, Neck muscle ... |
ORPHA:98915 |
Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:559 |
Glycogen Storage Disease Vii |
|
Muscle weakness, Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ophthalmoparesis, Proximal muscle weakness, Gait ataxia, Increased variability in muscle fiber di... |
ORPHA:70595 |
Severe Congenital Nemaline Myopathy |
|
Abnormality of the diaphragm, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle ... |
ORPHA:171430 |
Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
Native American Myopathy |
|
Camptodactyly, Inability to walk, Muscle fiber atrophy, Skeletal muscle atrophy, Muscle weakness,... |
ORPHA:168572 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Type 1 muscle fiber predominance, Poor head control, Increased variability in muscle fiber diamet... |
OMIM:612949 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging |
OMIM:613507 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Myopathy |
ORPHA:682 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Thymoma, Proximal amyotrophy, Hashimoto thyroiditis, Ophthalmoparesis, Type 2 muscle fiber atroph... |
OMIM:159400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy |
ORPHA:42 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Difficulty walking, Distal lower limb muscle weakness, Diabe... |
ORPHA:206572 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Limb muscle weakness, Limb-girdle muscle weakness, Skeletal muscle atrophy, Myopathy |
OMIM:112250 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
Danon Disease |
|
Lower limb amyotrophy, EMG: myopathic abnormalities, Proximal muscle weakness, Distal muscle weak... |
OMIM:300257 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:36 |
Genetic Recurrent Myoglobinuria |
|
Viral infection-induced rhabdomyolysis, Difficulty walking, Neck muscle weakness, Lower limb musc... |
ORPHA:99845 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy, Knee flexion contracture, Ske... |
ORPHA:3208 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Carcinoid Syndrome |
|
Hepatic necrosis, Myopathy |
ORPHA:100093 |
Thyrotoxic Periodic Paralysis |
|
Rhabdomyolysis, Graves disease, Thyrotoxicosis with toxic multinodular goiter, Episodic flaccid w... |
ORPHA:79102 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Weakness of facial musculature, Skeletal muscle atrophy, Scapular winging, Myopathy |
ORPHA:98673 |
Polymyositis |
|
Abnormal muscle fiber morphology, Gait disturbance, Proximal muscle weakness, Weight loss |
ORPHA:732 |
Immunodeficiency 9 |
|
Myopathy |
OMIM:612782 |
Carnitine Deficiency, Systemic Primary |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:604377 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Weakness of facial musculature, Myopathy |
OMIM:201470 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content, Myopathy |
ORPHA:367 |
Chylomicron Retention Disease |
|
EMG: myopathic abnormalities, Myopathy |
ORPHA:71 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting |
OMIM:606408 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Rhabdomyolysis, Myopathy |
ORPHA:228305 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers |
OMIM:619424 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia |
ORPHA:1166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Poor head control, Increased variability in muscle fiber diameter |
OMIM:616538 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Quadriceps muscle weakness, Hypothyroidism, Ophthalmoplegia, Gait disturbance,... |
ORPHA:254892 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
Scleromyxedema |
|
Hypoperistalsis, Abnormal skeletal muscle morphology, Myopathy |
ORPHA:167635 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Shoulder girdle muscle weakness, Decreased muscle mass, EMG: myopathic abnormalities, Upper limb ... |
ORPHA:263297 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness, Ataxia, Loss of ambulation, Hypergonadotropic hypogonadism, Decrease... |
OMIM:607426 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia |
OMIM:300887 |
Primary Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy |
ORPHA:90970 |
Glycogen Storage Disease Xii |
|
Delayed puberty, Muscle fiber splitting, Myopathy, Muscle weakness, Increased variability in musc... |
OMIM:611881 |
Snakebite Envenomation |
|
Rhabdomyolysis, Hypopituitarism, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Schisis Association |
|
Congenital diaphragmatic hernia |
ORPHA:63862 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor head control, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness,... |
ORPHA:2020 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Unsteady gait, Calf muscle hypertrophy, Knee flexion contracture, EMG: myopath... |
OMIM:618733 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Myopathy |
OMIM:609015 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Calf muscle hypertrophy, Myopathy |
ORPHA:261476 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
EMG: myopathic abnormalities, Myopathy |
ORPHA:99901 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Absent muscle fiber merosin, Inability to walk, Muscular dystrophy, Intercostal mus... |
ORPHA:258 |
Neutral Lipid Storage Disease With Ichthyosis |
|
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Shoulder girdle muscle w... |
ORPHA:98907 |
Carey-Fineman-Ziter Syndrome |
|
Facial palsy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Myopathy |
ORPHA:1358 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimulation test, Proxim... |
ORPHA:189427 |
Mcleod Syndrome |
|
Rhabdomyolysis, Myopathy |
OMIM:300842 |
Cystinosis |
|
Myopathy |
ORPHA:213 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Rhabdomyolysis, Unsteady gait, Skeletal muscle atrophy, Failure to thrive, Increased variability ... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy |
OMIM:614922 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Type 2 muscle fiber atrophy, Failure to thrive |
OMIM:613845 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Poor head control, Failure to thrive, Ragged-red muscle fibers, Ophthalmoplegia |
OMIM:614924 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Distal amyotrophy, Progressive external ophthalmoplegia, Cachexia, Ophthalmoparesi... |
OMIM:603041 |
Stormorken Syndrome |
|
Myopathy |
OMIM:185070 |
Melas |
|
Abnormal mitochondria in muscle tissue, Gait disturbance, Ataxia, Myopathy, Diabetes mellitus, Hy... |
ORPHA:550 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
Idiopathic Camptocormia |
|
Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Fatty replacement of skeletal musc... |
ORPHA:1320 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased ... |
OMIM:613150 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Carey-Fineman-Ziter Syndrome 1 |
|
Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Facial ... |
OMIM:254940 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Hypoplasia of the thymus, Torticollis, Increased variability in muscle fiber diameter |
OMIM:617022 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Rhabdomyolysis, Renal tubular epithelial necrosis, Myopathy |
ORPHA:157 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:300978 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:284180 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Congenital contracture, Type 2 muscle fiber atrophy, Type 1 mus... |
OMIM:619036 |
13Q12.3 Microdeletion Syndrome |
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Camptodactyly, Congenital diaphragmatic hernia |
ORPHA:412035 |
Sanjad-Sakati Syndrome |
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Myopathy |
ORPHA:2323 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Impaired tandem gait, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, EMG: myopathic abn... |
ORPHA:1900 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Congenital diaphragmatic hernia |
OMIM:606164 |
Localized Scleroderma |
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Flexion contracture, Skeletal muscle atrophy, Myopathy |
ORPHA:90289 |
Acquired Generalized Lipodystrophy |
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Calf muscle pseudohypertrophy, Myopathy |
ORPHA:79086 |
Malignant Hyperthermia Of Anesthesia |
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Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Necrotizing myopathy, Acute rhab... |
ORPHA:423 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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