Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Miyoshi Myopathy |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... |
ORPHA:45448 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Hypertrophia Musculorum Vera |
|
Calf muscle hypertrophy |
OMIM:145800 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Masticatory Muscles, Hypertrophy Of |
|
Skeletal muscle hypertrophy |
OMIM:154850 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture, Paraspinal muscle ... |
OMIM:602484 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
Myopathy, Distal, Tateyama Type |
|
Calf muscle hypertrophy |
OMIM:614321 |
Myopathy, Distal, Infantile-Onset |
|
Foot dorsiflexor weakness, Calf muscle hypertrophy |
OMIM:160300 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
Rippling Muscle Disease 2 |
|
Abnormal skeletal muscle morphology, Skeletal muscle hypertrophy |
OMIM:606072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... |
OMIM:608099 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Calf muscle hypertrophy |
OMIM:618135 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... |
ORPHA:280333 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... |
OMIM:616052 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Distal Myopathy With Anterior Tibial Onset |
|
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... |
ORPHA:178400 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... |
OMIM:608840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613157 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dystroglycan, Hypoglycosyla... |
ORPHA:370968 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Flexion contracture |
OMIM:611588 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:399058 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... |
OMIM:611307 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... |
ORPHA:34515 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
Miyoshi Muscular Dystrophy 3 |
|
Muscular dystrophy, Quadriceps muscle atrophy, Calf muscle hypertrophy |
OMIM:613319 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... |
OMIM:160500 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy |
OMIM:613877 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Flexion contracture, Rimmed vacuoles |
OMIM:300696 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... |
ORPHA:267 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Skeletal muscle hypertrophy |
ORPHA:101082 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... |
OMIM:610099 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... |
OMIM:609285 |
Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles |
ORPHA:263494 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... |
OMIM:613156 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Proximal amyotrophy, Muscular dystrophy, Scapular winging, Calf muscle hypertrophy |
OMIM:601287 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... |
ORPHA:98911 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... |
OMIM:612937 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Skeletal muscle hypertrophy |
OMIM:255710 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... |
ORPHA:171442 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Myotonia Congenita, Autosomal Recessive |
|
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy |
OMIM:255700 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... |
ORPHA:352479 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystrophy, Calf muscle hypertr... |
OMIM:616827 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Paramyotonia Congenita Of Von Eulenburg |
|
Skeletal muscle hypertrophy |
OMIM:168300 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... |
OMIM:167320 |
Salih Myopathy |
|
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... |
OMIM:611705 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Limb-gi... |
ORPHA:206559 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy |
ORPHA:99014 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:618138 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy |
OMIM:608390 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... |
ORPHA:206546 |
Dystonia 7, Torsion |
|
Torticollis, Skeletal muscle hypertrophy |
OMIM:602124 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... |
ORPHA:254864 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies |
OMIM:605637 |
Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:160800 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Richieri Costa-Da Silva Syndrome |
|
Asymmetric limb muscle stiffness, Decreased muscle mass, Distal lower limb muscle weakness, Skele... |
ORPHA:3101 |
Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy |
ORPHA:99736 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... |
ORPHA:437572 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... |
ORPHA:254361 |
Myotonia Permanens |
|
Generalized muscle hypertrophy, Skeletal muscle hypertrophy |
ORPHA:99735 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... |
ORPHA:597 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... |
OMIM:253700 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle atrophy, S... |
OMIM:606612 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... |
ORPHA:353327 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Skeletal muscle hypertrophy, Macroglossia, Reduced muscle fiber alpha dystroglycan, Congenital mu... |
ORPHA:370959 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
Minicore Myopathy With External Ophthalmoplegia |
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Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Ullrich Congenital Muscular Dystrophy 2 |
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Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy, Myositis |
ORPHA:565899 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... |
ORPHA:98905 |
Shox-Related Short Stature |
|
Skeletal muscle hypertrophy |
ORPHA:314795 |
Pparg-Related Familial Partial Lipodystrophy |
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Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... |
ORPHA:79083 |
Myopathy, Myofibrillar, 7 |
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Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... |
ORPHA:119 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Scapuloperoneal Spinal Muscular Atrophy |
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Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... |
OMIM:618484 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Marked muscular hypertrophy, Camptodactyly of toe, Joint contracture of the hand |
OMIM:300280 |
Neutral Lipid Storage Disease With Myopathy |
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Myopathy, Increased muscle lipid content |
OMIM:610717 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2348 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
Hyperkalemic Periodic Paralysis |
|
Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Flexion contracture |
ORPHA:682 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
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Centrally nucleated skeletal muscle fibers, Muscular dystrophy |
OMIM:617066 |
Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy |
OMIM:600705 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Myopathy, Centronuclear, 2 |
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Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... |
OMIM:255200 |
X-Linked Centronuclear Myopathy |
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Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... |
ORPHA:596 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... |
ORPHA:57 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98855 |
Proximal Myopathy With Extrapyramidal Signs |
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Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... |
OMIM:616812 |
Hypokalemic Periodic Paralysis |
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Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Cap Myopathy |
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Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... |
ORPHA:171881 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... |
OMIM:252011 |
Schwartz-Jampel Syndrome, Type 1 |
|
Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle hypertrop... |
OMIM:255800 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Classic Multiminicore Myopathy |
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Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Ge... |
ORPHA:324604 |
Ullrich Congenital Muscular Dystrophy 1 |
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Reduced muscle collagen VI, Torticollis, Generalized amyotrophy, Facial palsy, Congenital muscula... |
OMIM:254090 |
Autosomal Recessive Progressive External Ophthalmoplegia |
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Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Muscle fiber atrophy, Sca... |
ORPHA:254886 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98863 |
Immune-Mediated Necrotizing Myopathy |
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Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... |
ORPHA:206569 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:261 |
Cidec-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Calf muscle hypertrophy |
ORPHA:435651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... |
OMIM:617258 |
Congenital Generalized Lipodystrophy |
|
Macroglossia, Skeletal muscle hypertrophy |
ORPHA:528 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... |
OMIM:258450 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture, Shoulder girdle muscle ... |
OMIM:607155 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... |
ORPHA:169189 |
Leri-Weill Dyschondrosteosis |
|
Skeletal muscle hypertrophy |
OMIM:127300 |
Primary Lipodystrophy |
|
Myopathy, Skeletal muscle hypertrophy |
ORPHA:90970 |
Stiff Person Spectrum Disorder |
|
Paraspinal muscle hypertrophy |
ORPHA:3198 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... |
OMIM:615418 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of facial musculature |
ORPHA:352447 |
Lipe-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in... |
ORPHA:435660 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Rimmed vacuoles, Flexion contracture, Centrally nucleated skel... |
OMIM:248800 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
King-Denborough Syndrome |
|
Minicore myopathy, Weakness of facial musculature, Muscle fiber atrophy, Centrally nucleated skel... |
OMIM:619542 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Proximal upper limb muscle hypertrophy, Myopathy, Muscle hypertrophy of the lower extremities, Sk... |
ORPHA:280365 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... |
ORPHA:52430 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Flexion contracture |
OMIM:613327 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... |
ORPHA:600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa... |
OMIM:157640 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diaphragmatic e... |
OMIM:616866 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... |
OMIM:619574 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness |
OMIM:609286 |
Schwartz-Jampel Syndrome |
|
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... |
ORPHA:800 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased intramuscular fat, Skeletal muscle hypertrophy |
OMIM:151660 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter |
OMIM:607459 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Skeletal muscle atrophy, Contractures of the joint... |
ORPHA:300605 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:367 |
Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Rimmed vacuoles |
OMIM:606070 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Neuromuscular Oculoauditory Syndrome |
|
EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... |
OMIM:618733 |
Myhre Syndrome |
|
Skeletal muscle hypertrophy |
ORPHA:2588 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal amyotrophy |
OMIM:603041 |
Neutral Lipid Storage Myopathy |
|
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... |
ORPHA:98908 |
Myhre Syndrome |
|
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Camptodactyly |
OMIM:139210 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Neck muscle hypertrophy |
ORPHA:420492 |
Polymyositis |
|
Abnormal muscle fiber morphology |
ORPHA:732 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased varia... |
OMIM:164310 |
Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... |
ORPHA:168572 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Congenital muscular dystrophy,... |
ORPHA:258 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... |
ORPHA:565612 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... |
ORPHA:79102 |
Wiedemann-Rautenstrauch Syndrome |
|
Limb hypertonia, Skeletal muscle hypertrophy, Camptodactyly of finger |
ORPHA:3455 |
Mowat-Wilson Syndrome |
|
Generalized muscle hypertrophy |
OMIM:235730 |
Parkes Weber Syndrome |
|
Muscle hypertrophy of the lower extremities, Lower limb muscle weakness |
ORPHA:90307 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Muscle hypertrophy of the lower extremities |
ORPHA:1772 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
ORPHA:3286 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
|
OMIM:615441 |
Romano-Ward Syndrome |
|
|
ORPHA:101016 |