Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine |
OMIM:212160 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Scapuloperoneal Myopathy, Myh7-Related |
|
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature |
OMIM:181430 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
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 |
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 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Fa... |
OMIM:500002 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Salih Myopathy |
|
Myopathy, Mitochondrial depletion, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Ce... |
OMIM:611705 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy, Decreased activity of mitochondrial respiratory chain |
OMIM:613076 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular winging, Myofibrillar myopathy, ... |
OMIM:300695 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Failure to thrive, Nemaline bodies, Myopathy |
OMIM:618246 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
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 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Decreased activity of mitochondrial complex IV, Increased intramyocellular lipid droplets, Weakne... |
OMIM:619062 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... |
OMIM:614065 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Nemaline Myopathy 7 |
|
Nemaline bodies, Minicore myopathy, Myofibrillar myopathy |
OMIM:610687 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... |
OMIM:158810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... |
OMIM:618484 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Limb muscle weakness |
OMIM:257600 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathic abnormalities, M... |
ORPHA:424107 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accu... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... |
OMIM:608099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... |
OMIM:300580 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Bethlem Myopathy 2 |
|
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:619024 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Myopathy, Facial palsy |
OMIM:253320 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Decreased activity of mitocho... |
ORPHA:254864 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... |
OMIM:612937 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, ... |
ORPHA:399081 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy |
OMIM:617066 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Pleoconial Myopathy With Salt Craving |
|
Proximal amyotrophy, Myopathy |
OMIM:262900 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myopathy, Slender build, Decreased mitochondrial number, Multiple joint contractures, Limb-girdle... |
ORPHA:352470 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Distal Myopathy With Anterior Tibial Onset |
|
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... |
ORPHA:178400 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... |
ORPHA:437572 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... |
ORPHA:171442 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies |
OMIM:605637 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... |
OMIM:619216 |
Myopathy, Centronuclear, 2 |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... |
OMIM:255200 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Myopathy, Spheroid Body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy |
OMIM:182920 |
Nemaline Myopathy 1 |
|
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... |
OMIM:609284 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Myopathy, Abnormality of the mitochondrion |
ORPHA:91130 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... |
ORPHA:596 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... |
ORPHA:98911 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... |
OMIM:610099 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Myopathy |
OMIM:616321 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy |
OMIM:225740 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:399058 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Mitochondrial respiratory chain defects |
ORPHA:104 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture |
OMIM:615348 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... |
OMIM:611307 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, Mitochondrial swelling, EMG: myopathic abnormalities, Increased variability in muscle f... |
ORPHA:397744 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Decreased activity of mitochondrial complex III, Increased intramyocellular lipid dropl... |
OMIM:255125 |
Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Flexion contracture, Centr... |
OMIM:248800 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Flexion contracture, Rimmed vacuoles |
OMIM:300696 |
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 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:603034 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... |
OMIM:616812 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Small for gestational age, Flexion contracture, Conge... |
OMIM:615368 |
King-Denborough Syndrome |
|
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Muscle fiber atrophy, Centr... |
OMIM:619542 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Limb-girdle muscular dystroph... |
ORPHA:280333 |
Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content |
OMIM:261750 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Fiber type grouping, Decreased activity of mitochondrial complex IV, D... |
OMIM:500013 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... |
ORPHA:597 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... |
OMIM:160500 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... |
ORPHA:169189 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
Rigid Spine Syndrome |
|
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Elbow flexion contrac... |
ORPHA:97244 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Myopathy |
OMIM:618234 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:605809 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Myopathy, Facial palsy, Flexion contracture |
OMIM:201470 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content |
OMIM:610717 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities |
OMIM:608807 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... |
ORPHA:353327 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Decreased activity of mitochondrial complex IV, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... |
OMIM:617258 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Myopathy, Facial palsy, Congenital muscular dystrophy |
OMIM:602541 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
OMIM:616794 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Myopathy |
OMIM:254960 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... |
ORPHA:119 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Muscular dystrophy, Limb-gird... |
OMIM:613818 |
Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... |
OMIM:609285 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:615511 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Myopathy, Myofibrillar, 6 |
|
Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion contracture, Mus... |
OMIM:612954 |
Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles |
ORPHA:263494 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... |
OMIM:616052 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... |
OMIM:602771 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Skeletal muscle atrophy, Cachexia, Flexion contracture |
ORPHA:157973 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Barth Syndrome |
|
Failure to thrive, Abnormal mitochondrial morphology, Skeletal myopathy |
OMIM:302060 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... |
OMIM:301830 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsic hand muscle atro... |
OMIM:619574 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... |
ORPHA:34515 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Flexion contracture |
OMIM:310440 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Generalized amyotrophy, Decre... |
ORPHA:352447 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy |
OMIM:618242 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... |
ORPHA:57 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Myopathy |
ORPHA:26792 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... |
OMIM:154275 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98855 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... |
ORPHA:206569 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Muscle fiber atrophy, Sca... |
ORPHA:254886 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine |
OMIM:212140 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:614924 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV... |
OMIM:615418 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Hypoglycosylation... |
ORPHA:352479 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... |
OMIM:154276 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:300179 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Increased mitochondrial number, EMG: myopathic abnormalities, Shoulder gir... |
ORPHA:263297 |
Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Myopathy, Flexion contracture |
OMIM:618237 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Nemaline Myopathy 3 |
|
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... |
OMIM:161800 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... |
ORPHA:477774 |
Duchenne And Becker Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Flexion contracture, Campt... |
ORPHA:272 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98863 |
Sengers Syndrome |
|
Myopathy |
OMIM:212350 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98853 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Adrenomyodystrophy |
|
Myopathy |
OMIM:300270 |
Myopathy, Congenital, With Tremor |
|
Scapular winging, EMG: myopathic abnormalities, Flexion contracture |
OMIM:618524 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Failure to thrive in infancy, Skeletal muscle atrophy, Weakness of facial musculature, ... |
ORPHA:254875 |
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, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:618138 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Myopathy, Flexion contracture |
OMIM:616549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... |
OMIM:253700 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy, Small for gestational age |
OMIM:307030 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... |
ORPHA:254361 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Increased intramyocellular lipid droplets |
OMIM:612016 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... |
ORPHA:98913 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive |
OMIM:618378 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Lower limb muscle weakness, EMG: myopathic abnormalities, Distal amyo... |
ORPHA:99939 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Typical Nemaline Myopathy |
|
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... |
ORPHA:171436 |
Adrenomyodystrophy |
|
Failure to thrive, Myopathy |
ORPHA:977 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
Immunodeficiency 9 |
|
Failure to thrive, Myopathy |
OMIM:612782 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro... |
OMIM:608931 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Congenital muscular dystrophy, Facial palsy, EMG: myopathic abnormalities, Limb muscle weakness |
OMIM:601170 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Fa... |
ORPHA:324604 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
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 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy |
OMIM:601462 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita |
OMIM:254210 |
Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy, Cachexia |
ORPHA:1876 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy |
OMIM:617713 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... |
OMIM:254090 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Cachexia, Skeletal muscle atrophy, Decreased plasma total carnitine |
ORPHA:42 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Mitochondrial respiratory chain defects, Type 2 muscle fiber atrophy, ... |
ORPHA:319514 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Abnormal muscle glycogen content, Flexion c... |
ORPHA:367 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:85329 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis, Decreased plasma free carnitine, Decreased plasma total carnitine |
ORPHA:228305 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
Carey-Fineman-Ziter Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Facial palsy, Pectoralis hypoplasia, Flexio... |
OMIM:254940 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance |
OMIM:619028 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnormalities, Mus... |
OMIM:258450 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity, EMG: myopathic abnormalities |
OMIM:618822 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... |
ORPHA:171881 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... |
ORPHA:98905 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... |
OMIM:619040 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Myopathy, Limb-girdle muscle weakness |
ORPHA:1215 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Chylomicron Retention Disease |
|
Failure to thrive, Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, Failure to thrive, EMG: myopathic abnormalities, Decreased plasma carnitine, Decreased ... |
ORPHA:99901 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, EMG: myopathic abnormalities |
OMIM:601419 |
Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:713 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diameter |
OMIM:619334 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Abnormality of the mitochondrion |
ORPHA:330050 |
Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... |
ORPHA:559 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2348 |
Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis |
OMIM:300842 |
Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... |
ORPHA:79083 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Foot dorsiflexor weakness... |
ORPHA:298 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Facial palsy, Myopathy, Skeletal muscle atrophy |
OMIM:616239 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive, Myopathy, Rhabdomyolysis, Small for gestational age |
OMIM:609015 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... |
ORPHA:52430 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... |
OMIM:616867 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Slender build, Distal amyotrophy |
OMIM:603041 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Skeletal myopathy, Weight loss, Knee flexion contracture, Left ventricul... |
ORPHA:3208 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness |
OMIM:609286 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Shoulder girdl... |
ORPHA:98907 |
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 |
Hyperkalemic Periodic Paralysis |
|
Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Flexion contracture |
ORPHA:682 |
Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Right ventr... |
ORPHA:98915 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... |
OMIM:619461 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
Neutral Lipid Storage Myopathy |
|
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... |
ORPHA:98908 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Myopathy, Skeletal muscle atrophy, Limb-girdle muscle weakness, Limb muscle weakness |
OMIM:112250 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Scapular winging, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature |
ORPHA:98673 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... |
ORPHA:600 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activi... |
ORPHA:17 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Glycogen Storage Disease Xii |
|
Myopathy |
OMIM:611881 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
Caribbean Parkinsonism |
|
EMG: myopathic abnormalities |
ORPHA:97355 |
Cystinosis |
|
Failure to thrive, Myopathy |
ORPHA:213 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Stormorken Syndrome |
|
Myopathy |
OMIM:185070 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexi... |
ORPHA:171430 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Failure to thrive, Fac... |
ORPHA:254892 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy |
OMIM:614922 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysis, Skeletal muscle atrophy, Increas... |
ORPHA:368 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Primary Lipodystrophy |
|
Myopathy, Skeletal muscle hypertrophy |
ORPHA:90970 |
Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Rimmed vacuoles |
OMIM:606070 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content |
OMIM:232800 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Proximal amyotrophy, Type 2 muscle fiber atrophy |
OMIM:159400 |
Idiopathic Camptocormia |
|
Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal muscle fiber d... |
ORPHA:1320 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis, Decreased plasma free carnitine, Decreased plasma total carnitine |
ORPHA:157 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Myopathy, Calf muscle hypertrophy |
ORPHA:261476 |
Scleromyxedema |
|
Myopathy, Abnormal skeletal muscle morphology |
ORPHA:167635 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy |
OMIM:261740 |
Myotonic Dystrophy 2 |
|
Oligospermia, Type 2 muscle fiber atrophy |
OMIM:602668 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diaphragmatic e... |
OMIM:616866 |
Triosephosphate Isomerase Deficiency |
|
Myopathy, Skeletal muscle atrophy |
OMIM:615512 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Paramyotonia Congenita Of Von Eulenburg |
|
EMG: myopathic abnormalities, Facial muscle hypertrophy |
ORPHA:684 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Leigh Syndrome |
|
Myopathy, Decreased activity of the pyruvate dehydrogenase complex, Skeletal muscle atrophy, Decr... |
ORPHA:506 |
Carey-Fineman-Ziter Syndrome |
|
Facial palsy, Myopathy, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy |
ORPHA:1358 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Weight loss, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, In... |
OMIM:164310 |
Danon Disease |
|
Myocardial necrosis, Generalized amyotrophy, EMG: myopathic abnormalities |
OMIM:300257 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG: myopathic abnorma... |
ORPHA:502423 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... |
ORPHA:565612 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Skeletal myopathy, Left ventricular hypertrophy, Rhabdomyolysis, Lo... |
ORPHA:746 |
Neuromuscular Oculoauditory Syndrome |
|
EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... |
OMIM:618733 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Cachexia, Skeletal muscle atrophy, Contractures of... |
ORPHA:300605 |
Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter |
OMIM:607459 |
Polymyositis |
|
Weight loss, Abnormal muscle fiber morphology |
ORPHA:732 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Lethal Congenital Contracture Syndrome 9 |
|
Myopathy, Congenital contracture, Abnormality of the diaphragm |
OMIM:616503 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers |
OMIM:607426 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Distal arthrogryposis, Myopathy, Diaphragmatic eventration, Failure to thrive in infancy |
OMIM:618975 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Rhabdomyolysis |
ORPHA:449285 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Myopathy, Skeletal muscle atrophy |
OMIM:614557 |
Melas |
|
Failure to thrive, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy |
ORPHA:550 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Weight loss, Myopathy |
ORPHA:85450 |
Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Hip contracture, EMG: myopathic abnormalities, Knee flexion contracture, Severe failure... |
ORPHA:371364 |
Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Failure to thrive |
OMIM:242840 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... |
OMIM:619036 |
Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Failure to thrive in infancy |
OMIM:162300 |
Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy |
ORPHA:79086 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Localized Scleroderma |
|
Myopathy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:90289 |
Congenital Myasthenic Syndrome |
|
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... |
ORPHA:590 |
Usher Syndrome |
|
Myopathy |
ORPHA:886 |
Presynaptic Congenital Myasthenic Syndromes |
|
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Muscle fiber atrophy, Distal am... |
ORPHA:98914 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Proximal upper limb muscle hypertrophy, Myopathy, Muscle hypertrophy of the lower extremities, Sk... |
ORPHA:280365 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Acute rhab... |
ORPHA:423 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Myopathy, Skeletal muscle atrophy, Cachexia |
ORPHA:109 |
Overlap Myositis |
|
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... |
ORPHA:206572 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Weight loss, Increased intramyocellular lipid droplets, Obesity... |
ORPHA:79102 |
Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... |
ORPHA:168572 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Myopathy, Arthrogryposis multiplex congenita |
ORPHA:2953 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Congenital muscular dystrophy,... |
ORPHA:258 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
Scleroderma |
|
Myopathy, Facial palsy, Flexion contracture |
ORPHA:801 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma free carnitine, Increased muscle lipid content, Knee flexion contracture, Decrea... |
OMIM:608836 |
Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
Schwartz-Jampel Syndrome |
|
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... |
ORPHA:800 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Limb muscle weakness, EMG: myopathic abnormalities, Muscle fib... |
ORPHA:1900 |
Cystinosis, Nephropathic |
|
Myopathy, Decreased plasma carnitine, Skeletal muscle atrophy, Failure to thrive in infancy |
OMIM:219800 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Abnormality of the mitochondrion, Joint contracture of the hand, Camptodactyly |
OMIM:214110 |
Wolfram Syndrome |
|
Myopathy |
ORPHA:3463 |
Abetalipoproteinemia |
|
Failure to thrive, Distal lower limb muscle weakness, Myopathy |
ORPHA:14 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Congenital Ptosis |
|
Increased muscle lipid content, Congenital facial diplegia, Congenital fibrosis of extraocular mu... |
ORPHA:91411 |
Bannayan-Riley-Ruvalcaba syndrome |
|
Myopathy |
OMIM:153480 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Decreased activity of mitochondrial complex II... |
OMIM:252010 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Myopathy, Facial hypotonia |
ORPHA:309282 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Macroglossia, Failure to thrive, Facial hypotonia, EMG: myopathic abnormalities, Left ventricular... |
ORPHA:365 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:536545 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Myopathy |
OMIM:234200 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Myopathy, Hip contracture, Flexion contracture |
ORPHA:3042 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Acute rhabdomyolysis, EMG: myopathic abnormalities |
ORPHA:480864 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Myopathy, Weight loss, Muscle fiber atrophy, Distal amyotrophy |
ORPHA:2388 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Ragged-red muscle fibers |
ORPHA:255210 |
1P36 Deletion Syndrome |
|
Failure to thrive, Obesity, Myopathy, Camptodactyly of finger |
ORPHA:1606 |
Dermatomyositis |
|
Weight loss, Inflammatory myopathy |
ORPHA:221 |
Williams Syndrome |
|
Macroglossia, Obesity, Myopathy, Failure to thrive in infancy |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Decreased body weight, Tendon rupture |
OMIM:182250 |
Sialuria |
|
Abnormality of the mitochondrion |
ORPHA:3166 |
Proteus Syndrome |
|
Decreased muscle mass, Cachexia, Myofibrillar myopathy |
ORPHA:744 |