Myopathy, Myofibrillar, 3 |
|
Proximal muscle weakness, Progressive distal muscle weakness, Muscle fiber cytoplasmatic inclusio... |
OMIM:609200 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Arrhythmia, Flexion contracture, Sca... |
OMIM:300695 |
Myopathy, Distal, 4 |
|
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardio... |
OMIM:614065 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Torticoll... |
OMIM:158810 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Neck flexor weakness, Limb muscle weakness |
OMIM:609273 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal mu... |
ORPHA:611 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Nemaline Myopathy 7 |
|
Gowers sign, Minicore myopathy, Myofibrillar myopathy, Respiratory insufficiency due to muscle we... |
OMIM:610687 |
Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Proximal muscle weakness, Myopathy, Growth delay |
OMIM:255140 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Inclusion Body Myositis |
|
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Scapuloperoneal Myopathy, Myh7-Related |
|
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature |
OMIM:181430 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Proximal muscle weakness, Muscle fiber hypertrophy, Skeletal muscle atrophy... |
ORPHA:178464 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Proximal muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Facial pals... |
OMIM:609456 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Proximal muscle weakness, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal mor... |
OMIM:615424 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Proximal muscle weakness, Atrial fibrillation, Bradycardia, Muscular dystrop... |
OMIM:614302 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Respiratory insufficiency due to muscle weaknes... |
OMIM:608810 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
Myopathy, Spheroid Body |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... |
OMIM:182920 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Gowers sign, Myopathy, Proximal muscle weakness, Rimmed vacuoles, Muscle ... |
OMIM:612937 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Autophagic vacuoles, Facial diplegia, Respiratory insufficien... |
ORPHA:399058 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Proxi... |
OMIM:609524 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy |
OMIM:609500 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Proximal muscle weakness, Myopathy, Supraventricular tachycardia, Cardiomyopathy, Fatty replaceme... |
OMIM:255100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Scapular winging, Abdominal wall muscle ... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal muscle weakness, Distal amyotrophy |
OMIM:606768 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Generalized muscle weakness, Neck muscle weakness, Ophthalmop... |
OMIM:605637 |
Zebra Body Myopathy |
|
Gowers sign, Proximal muscle weakness, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopa... |
ORPHA:97240 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopa... |
OMIM:500002 |
Myopathy, Myofibrillar, 4 |
|
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... |
OMIM:609452 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Muscle weakness, Increased vari... |
OMIM:613204 |
Rigid Spine Syndrome |
|
Poor head control, Myopathy, Gowers sign, Skeletal muscle atrophy, Hip contracture, Cardiac condu... |
ORPHA:97244 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, External ophthalmoplegia, EMG: myopathic abnormalities, Rimmed va... |
OMIM:618940 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy, Growth delay |
OMIM:613933 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Proximal muscle weakness, Myopathy, Minicore myopathy, Respiratory insufficiency due to muscle we... |
ORPHA:424107 |
Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Static ophthalmoparesis, Limb muscle weakness |
OMIM:257600 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness... |
ORPHA:266 |
Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Generalized muscle weakness, Calf muscle hypertro... |
OMIM:611705 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Short stature, Respiratory insufficiency due to muscle weakness... |
OMIM:300580 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Neck flexor weakness, Respirato... |
ORPHA:171442 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Progressive distal muscle weak... |
ORPHA:399081 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Muscle weakness, Myopathy |
OMIM:616314 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Bethlem Myopathy 2 |
|
Proximal muscle weakness, Myopathy, Muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:616471 |
Neutral Lipid Storage Disease With Myopathy |
|
Gowers sign, Myopathy, Increased muscle lipid content, Proximal muscle weakness, Short stature, C... |
OMIM:610717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscle atrophy,... |
OMIM:254110 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Nemaline Myopathy 1 |
|
Proximal muscle weakness, Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnorma... |
OMIM:609284 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Increased variability in muscle fiber diameter, Distal amyotrophy... |
OMIM:619042 |
Distal Myotilinopathy |
|
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathi... |
ORPHA:98911 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Palpitations, Calf mu... |
ORPHA:488650 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Myopathy, Facial palsy, Short stature |
OMIM:253320 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... |
OMIM:619216 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Gowers sign, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscu... |
OMIM:602541 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Neck flexor weakness, Palpitations, Ventricular hypertrophy, Ventricular t... |
ORPHA:263297 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Pleoconial Myopathy With Salt Craving |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy |
OMIM:262900 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmop... |
ORPHA:270 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
OMIM:608423 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Proximal muscle weakness, Rimmed vacuoles, Scapuloperoneal weakness,... |
OMIM:300696 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory i... |
OMIM:603034 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Facial palsy, EMG: myopathic abno... |
OMIM:609283 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Generalized muscle w... |
ORPHA:34516 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Neck flexor weakness, Diaphragmatic weak... |
OMIM:603689 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Gowers sign, Myopathy, Proximal muscle weakness, Triceps weakness, Generalized amyotrophy, Cardio... |
ORPHA:86812 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Weakness of... |
OMIM:160565 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormaliti... |
OMIM:611307 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Myopathy, Ragged-red muscle fibers, Proximal muscle weakness, Poor head control, Mus... |
ORPHA:353327 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Genera... |
OMIM:608358 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... |
OMIM:605355 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion d... |
OMIM:310300 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Myopathy, Generalized muscle weakness |
OMIM:616321 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuo... |
OMIM:616924 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, EMG: myopathic abnorm... |
ORPHA:399086 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable weakness of ... |
ORPHA:171439 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... |
OMIM:181350 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Proximal muscle weakness, Weakness of facial musculature, Internally nucleated skeletal muscle fi... |
OMIM:618654 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Ophthalmoparesis, Facial palsy, Muscle weakness, Flexion contracture, Nema... |
OMIM:615348 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Poor head control, Myopathy, Skeletal muscle atrophy, Congestive heart failure, Flexion contractu... |
ORPHA:157973 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Proximal muscle weakness, Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakne... |
OMIM:616812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to mus... |
OMIM:605809 |
Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Fatiguable weakness of proximal l... |
ORPHA:206569 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Limb mu... |
OMIM:609286 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Proximal muscle weakness, Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder... |
OMIM:167320 |
Myopathy, Distal, 3 |
|
Late-onset proximal muscle weakness, Joint contracture of the hand, EMG: myopathic abnormalities,... |
OMIM:610099 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Ophthalmoplegia, ... |
OMIM:540000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Proximal muscle weakness, Skeletal muscle atrophy, EMG: myopathic abnormalities, Muscular dystrop... |
OMIM:608807 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Short stature |
ORPHA:366 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Nemaline Myopathy 2 |
|
Generalized muscle weakness, Late-onset distal muscle weakness, Calf muscle pseudohypertrophy, Pr... |
OMIM:256030 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... |
ORPHA:597 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy, Intrauterine growth retardation |
OMIM:618246 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Proportionate short stature |
ORPHA:50817 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Proximal muscle weakness, Myopathy |
OMIM:551500 |
Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Facial palsy, Generalized amyotrophy, EMG: ... |
OMIM:612954 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Progressive external ophthalmoplegia, External ophthalmoplegia, Facial palsy, Cardiomyo... |
OMIM:201470 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, External ophthalmoplegia, Facial palsy, EM... |
OMIM:160150 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture |
OMIM:616313 |
Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Proximal muscle weakness, Neck flexor weakness, Limb muscle weakness, Res... |
OMIM:161800 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Muscle weakness, Myopathy, Episodic flaccid weakness |
OMIM:170400 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Myopathy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Weakness of facial muscu... |
ORPHA:254875 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Muscle weakne... |
OMIM:615422 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Muscle weakness, Myopathy, Growth delay |
OMIM:212350 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Growth delay, Skeletal myopathy, E... |
ORPHA:57 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy, Abnormal EKG,... |
OMIM:300376 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gowers sign, Myopathy, Progressive external ophthalmoplegia, Multiple joint contractures, Limb-gi... |
ORPHA:352470 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Proximal muscle weakness, Minicore myopathy, Z-band streaming, Fatty replacement of skeletal musc... |
OMIM:618823 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, In... |
ORPHA:119 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... |
ORPHA:2596 |
Glycogen Storage Disease Iii |
|
Myopathy, Short stature, Ventricular hypertrophy, Cardiomyopathy, Muscle weakness, Distal amyotrophy |
OMIM:232400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Poor head control, Myopathy, Skeletal muscle atrophy, Arterial rupture, Muscle weakness |
ORPHA:300179 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Gowers sign, Neck flexor weakness, Macroglossia, Right ventricular hypertrophy, Achilles tendon c... |
ORPHA:353 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Muscle weakness... |
ORPHA:254864 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... |
ORPHA:98902 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Poor head control, Minicore myopathy, Short stat... |
OMIM:602771 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... |
ORPHA:98855 |
Proximal Spinal Muscular Atrophy |
|
Proximal muscle weakness, Poor head control, Intercostal muscle weakness, Skeletal muscle atrophy... |
ORPHA:70 |
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 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Gowers sign, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achill... |
ORPHA:254361 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Respiratory insufficiency due to muscle weakness, Increased ... |
OMIM:616816 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Ventricular hypertrophy, At... |
OMIM:115197 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Short stature, Increased... |
OMIM:619065 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myopathy, Skeletal muscle hypertrophy, Short stature, Macroglossia, Muscle weakness |
ORPHA:2349 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... |
OMIM:619048 |
Myopathy, Congenital, With Tremor |
|
Proximal muscle weakness, EMG: myopathic abnormalities, Flexion contracture, Scapular winging, Ax... |
OMIM:618524 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... |
ORPHA:98863 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Proximal muscle weakness, Minicore myopathy, Ske... |
OMIM:255320 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Bradycardia |
OMIM:614654 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... |
ORPHA:610 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia |
OMIM:616276 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Proximal muscle weakness, Myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalit... |
ORPHA:397744 |
Myopathy, Centronuclear, 2 |
|
Gowers sign, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Generali... |
OMIM:255200 |
Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Arthrogryposis multiple... |
OMIM:301830 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Ventricular hypertrophy, Atrioventric... |
OMIM:212138 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:615511 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Neck flexor we... |
ORPHA:98913 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Proximal muscle weakness, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, External opht... |
ORPHA:254886 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Proximal muscle weakness, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:612999 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia,... |
ORPHA:352447 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... |
ORPHA:370980 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, Minicore myopathy, Limb muscle weakness, Respirat... |
ORPHA:486815 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Con... |
OMIM:261740 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myopathy, Gowers sign, Skeletal muscle atrophy, Flexion ... |
OMIM:310440 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture |
OMIM:618815 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Muscular dystrophy, Arrhythmia, Shoulder girdle muscle weakness |
OMIM:310095 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Short stature |
ORPHA:408 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Episodic flaccid weakness |
OMIM:613345 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Proximal muscle weakness, Skeletal muscle hypertrophy, Short stature, Macroglossia, Achilles tend... |
OMIM:608840 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Myopathy, Muscle fiber atrophy, Muscular dystrophy, Limb-girdle muscula... |
ORPHA:369840 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Gowers sign, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Respiratory insuffi... |
OMIM:609560 |
Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... |
OMIM:618782 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Proximal muscle weakness, Generalized amyotr... |
OMIM:300257 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Reduced muscle c... |
OMIM:212140 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Proximal muscle weakness, Poor head control, Skeletal muscle atrophy... |
ORPHA:3208 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:618138 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Diaphragmatic weakness, Generalized amyotrophy, EM... |
ORPHA:75840 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Progressive external ophthalmoplegia, Cardiomegaly, Cardiomyopathy, Left ventricular hy... |
OMIM:617713 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Typical Nemaline Myopathy |
|
Fatiguable weakness of proximal limb muscles, Myopathy, Neck flexor weakness, Facial diplegia, Fa... |
ORPHA:171436 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... |
OMIM:619040 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myopathy, Palpitations, Increased intramyocellular lipid droplets, Muscle weakness, Rhabdomyolysis |
OMIM:255125 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618236 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Proximal muscle weakness, EMG: myopathic abnormalities, Distal amyotrophy, Upper limb muscle weak... |
ORPHA:99939 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Myopathy, Intrauterine growth retardation, Hypoglycosylation of alpha-dys... |
ORPHA:272 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Growth delay |
OMIM:618242 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Muscle weakness, Rhabdomyo... |
OMIM:300842 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Myopathy, Intrauterine growth retardation, Flexion contracture |
OMIM:618237 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Proximal muscle weakness, Ragged-red muscle fibers, Mitral valve prolapse, Progressive external o... |
OMIM:258450 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Delayed puberty |
ORPHA:2598 |
Hypophosphatasia, Childhood |
|
Myopathy, Short stature |
OMIM:241510 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, Skeletal myopathy, Endocardial... |
OMIM:302060 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Synaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle ... |
ORPHA:98915 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Limb muscle weakness, Facial palsy, EMG: myopathic abnormalities, Generalized muscle weakness, Co... |
OMIM:601170 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Proximal muscle weakness, Macroglossia, Achilles tendon contracture, Shoulde... |
OMIM:606612 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... |
ORPHA:178148 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Myopathy, Short stature, Cardiomyopathy, Flexion contracture, Nemaline bodies |
OMIM:616549 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Proximal muscle weakness, Skeletal muscle atrophy, Cardiomegaly,... |
ORPHA:42 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Short stature, Progressive muscle weakness, Rimmed vacuoles, F... |
OMIM:248800 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Severe po... |
ORPHA:98905 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Poor head control, Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR inte... |
ORPHA:542306 |
Neutral Lipid Storage Myopathy |
|
Gowers sign, Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness... |
ORPHA:98908 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Flexion contracture |
OMIM:614498 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... |
OMIM:115200 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Muscle weakness, Myopathy, Short stature |
ORPHA:166002 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mus... |
OMIM:619334 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... |
OMIM:601005 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... |
OMIM:254090 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Poor head control, Skeletal muscle atrophy, Growth delay, Pulmonary arterial hypertension, Bradyc... |
OMIM:619272 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... |
OMIM:615418 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Proximal muscle weakness, Short stature, Generalized amyotrophy, EMG: myopathic abnormalities, Ri... |
ORPHA:52430 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Ventricular hypertrophy, Cardiomyopathy, Muscle weakness, Rhabdomyolysis, Arrhythmia |
ORPHA:228305 |
King-Denborough Syndrome |
|
Proximal muscle weakness, Ventricular septal defect, Minicore myopathy, Weakness of facial muscul... |
OMIM:619542 |
3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Bradycardia |
OMIM:617248 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia |
ORPHA:95717 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Increased ... |
OMIM:616867 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... |
OMIM:154275 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Proximal muscle weakness, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation... |
OMIM:613327 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Myopathy, Progressive external ophthalmoplegia, Limb-girdle muscle weakness |
ORPHA:1215 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia, Flexion contracture, Camptodactyly |
OMIM:610015 |
Illum Syndrome |
|
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita |
OMIM:208155 |
Carey-Fineman-Ziter Syndrome |
|
Myopathy, Skeletal muscle atrophy, Growth delay, Facial palsy, Pectoralis hypoplasia, Abnormal ca... |
OMIM:254940 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Myopathy |
OMIM:254960 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Immunodeficiency 9 |
|
Gowers sign, Myopathy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness |
OMIM:612782 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy, Ophthalmoparesis, Fatigable weakness, Ophthalmoplegia, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Hyperkalemic Periodic Paralysis |
|
Myopathy, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Ophthalmoparesis, Congestive hear... |
ORPHA:682 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia, Short stature |
ORPHA:2238 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Atrioventricular block, Bradycardia, Joint contracture of the 5th finger |
OMIM:614407 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... |
OMIM:154276 |
Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy, Growth delay, Short stature |
OMIM:307030 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... |
ORPHA:596 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Axial Osteomalacia |
|
Proximal muscle weakness, Myopathy |
OMIM:109130 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Gene... |
ORPHA:99901 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Right ventricular dilatation, Progressive proximal muscle weakness, Limb-girdle muscula... |
ORPHA:369847 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle atrophy, Severe ... |
ORPHA:559 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Poor head control, Limb hypertonia, Intrauterine growth retardation, Bradycardia, Muscle weakness... |
ORPHA:565624 |
Congenital Heart Defects, Multiple Types, 3 |
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Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... |
OMIM:614954 |
Mitochondrial Trifunctional Protein Deficiency |
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Skeletal myopathy, Progressive distal muscle weakness, Mitral regurgitation, Cardiomyopathy, Gene... |
ORPHA:746 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Tachycardia, Muscle weakness, Glycogen accu... |
ORPHA:368 |
Sick Sinus Syndrome 4 |
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Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Incessant Infant Ventricular Tachycardia |
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Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Generalized muscle weakness, Congestive heart failure, Rhabdomy... |
OMIM:609015 |
Long Qt Syndrome 14 |
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T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Facial palsy, Muscle weakness |
OMIM:616239 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
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Muscle weakness, Short stature, EMG: myopathic abnormalities, Ophthalmoplegia |
ORPHA:457365 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Hypertension, Intrauterine growth retardation, Left ventricular hypertrophy, Muscle weakness, Pos... |
OMIM:616733 |
Wild Type Attr Amyloidosis |
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Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
Oculogastrointestinal Muscular Dystrophy |
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Myopathy, Skeletal muscle atrophy, External ophthalmoplegia, Abnormal mitral valve morphology |
ORPHA:1876 |
Long Qt Syndrome 13 |
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Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Neutral Lipid Storage Disease With Ichthyosis |
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Myopathy, Short stature, Increased intramyocellular lipid droplets, Cardiomyopathy, EMG: myopathi... |
ORPHA:98907 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
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Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Stormorken Syndrome |
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Proximal muscle weakness, Myopathy, Epistaxis, Short stature |
OMIM:185070 |
Scleromyxedema |
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Proximal muscle weakness, Myopathy, Abnormal skeletal muscle morphology, Raynaud phenomenon, Tran... |
ORPHA:167635 |
Cardiomyopathy, Familial Hypertrophic, 17 |
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Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Progressive Familial Heart Block, Type Ii |
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Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Adrenomyodystrophy |
|
Myopathy |
OMIM:300270 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal muscle glycogen content, Abno... |
ORPHA:367 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Growth delay, Bradycardia, Tachycardia, Flexion contracture |
OMIM:614653 |
Oculopharyngodistal Myopathy 1 |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal muscle weakness, Paroxysmal atrial ... |
OMIM:164310 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
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Growth delay, Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexi... |
OMIM:619026 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Palpitations, Muscle weakness, Rhabdomyolysis, Tachycardia |
OMIM:188580 |
Romano-Ward Syndrome |
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Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Muscle weakness, Myopathy, Rhabdomyolysis |
ORPHA:713 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
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Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Cardiomyopathy, Dilated, 1E |
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Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Cardiac Arrhythmia, Ankyrin-B-Related |
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Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Sick Sinus Syndrome 1 |
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Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Pparg-Related Familial Partial Lipodystrophy |
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Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, S... |
ORPHA:79083 |
Infant Acute Respiratory Distress Syndrome |
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Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
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Myopathy, Skeletal muscle atrophy, Short stature |
ORPHA:85329 |
Triosephosphate Isomerase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Progressive muscle weakness, Respiratory insufficiency due to ... |
OMIM:615512 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Macroglossia, Bradycardia |
ORPHA:226313 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, External o... |
ORPHA:254892 |
Carcinoid Syndrome |
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Right ventricular failure, Facial telangiectasia, Myopathy, Palpitations, Tricuspid regurgitation... |
ORPHA:100093 |
Phosphoglycerate Kinase 1 Deficiency |
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Myopathy, Rhabdomyolysis |
OMIM:300653 |
Chanarin-Dorfman Syndrome |
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Muscle weakness, Myopathy |
OMIM:275630 |
Familial Thyroid Dyshormonogenesis |
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Macroglossia, Bradycardia |
ORPHA:95716 |
3-Methylglutaconic Aciduria, Type V |
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Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Intrauterine growth ... |
OMIM:610198 |
Triglyceride Deposit Cardiomyovasculopathy |
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Increased muscle lipid content, Skeletal myopathy, Coronary artery stenosis, Palpitations, Low-ou... |
ORPHA:565612 |
Autosomal Dominant Centronuclear Myopathy |
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Proximal muscle weakness in lower limbs, External ophthalmoplegia, Respiratory insufficiency due ... |
ORPHA:169189 |
Myotonic Dystrophy 2 |
|
Proximal muscle weakness, Type 2 muscle fiber atrophy, Neck flexor weakness, Palpitations, Tachyc... |
OMIM:602668 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle... |
ORPHA:2348 |
Cystinosis |
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Myopathy, Short stature, Muscle weakness, Portal hypertension, Delayed puberty |
ORPHA:213 |
Peripartum Cardiomyopathy |
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Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Cap Myopathy |
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Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... |
ORPHA:171881 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
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Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... |
OMIM:619461 |
Myotubular Myopathy With Abnormal Genital Development |
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Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death |
OMIM:300219 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... |
ORPHA:2041 |
Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
Cardiomyopathy, Familial Hypertrophic, 16 |
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Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
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Myopathy, Progressive external ophthalmoplegia |
OMIM:613077 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
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Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Limb muscle weakness, Limb-girdle mu... |
OMIM:112250 |
Long Qt Syndrome 9 |
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Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Malignant Hyperthermia Of Anesthesia |
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Necrotizing myopathy, Premature ventricular contraction, Ventricular tachycardia, Supraventricula... |
ORPHA:423 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hypertension, Myopathy |
ORPHA:363400 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Growth delay, Bradycardia |
OMIM:608800 |
Adrenomyodystrophy |
|
Myopathy, Short stature |
ORPHA:977 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Congestive heart failure, An... |
ORPHA:90970 |
Acitretin/Etretinate Embryopathy |
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Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, Biventricular ... |
ORPHA:860 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Generalized amyotrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Muscle fibe... |
OMIM:616866 |
Autosomal Dominant Optic Atrophy, Classic Form |
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Myopathy, Skeletal muscle atrophy, Weakness of facial musculature, Ophthalmoplegia, Scapular winging |
ORPHA:98673 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Limb mus... |
OMIM:157640 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Congenital Myasthenic Syndrome |
|
Proximal muscle weakness, Poor head control, Arthrogryposis multiplex congenita, EMG: myopathic a... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Proximal muscle weakness, Poor head control, Arthrogryposis multiplex congenita, EMG: myopathic a... |
ORPHA:98914 |
Aapoaiv Amyloidosis |
|
Hypertrophic cardiomyopathy, Hypertension, Cardiac amyloidosis, Abnormal cardiac ventricular func... |
ORPHA:439232 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Ce... |
OMIM:619518 |
Carey-Fineman-Ziter Syndrome |
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Myopathy, Skeletal muscle atrophy, Growth delay, Short stature, Hypertensive crisis, Facial palsy... |
ORPHA:1358 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral ischemia, Cardio... |
ORPHA:449285 |
Tetanus |
|
Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
Melas |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... |
ORPHA:550 |
Glycogen Storage Disease Xii |
|
Myopathy, Delayed puberty, Short stature |
OMIM:611881 |
Scleroderma |
|
Myocarditis, Right ventricular failure, Myopathy, Syncope, Pericarditis, Pulmonary arterial hyper... |
ORPHA:801 |
Chylomicron Retention Disease |
|
Growth delay, Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Cardiomyopathy, Muscle weakness, Rhabdomyolysis, Arrhythmia |
ORPHA:157 |
Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension |
ORPHA:391673 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Gowers sign, Proximal muscle weakness, Growth delay, Weakness of facial musculature, Short statur... |
ORPHA:502423 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Complete atrioventricular canal defect, Primum atrial septal defect, L... |
ORPHA:1329 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Generalized muscle weakness, Transient ischemic attack, Vasculitis, Shortened PR interval, Lower ... |
ORPHA:365 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Cardiomyopathy |
OMIM:614922 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Myopathy, Muscle hypertrophy of the lower extremities, Skeletal musc... |
ORPHA:280365 |
Bohring-Opitz Syndrome |
|
Intrauterine growth retardation, Short stature, Cardiomegaly, Facial hypotonia, Bradycardia, Abno... |
ORPHA:97297 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, EMG: myopathic abnormalities |
ORPHA:97355 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
EMG: myopathic abnormalities, Short stature |
OMIM:618822 |
Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Rhabdomyolysis, ... |
ORPHA:94093 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... |
ORPHA:75249 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Sanjad-Sakati Syndrome |
|
Severe intrauterine growth retardation, Myopathy, Postnatal growth retardation, Short stature |
ORPHA:2323 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Poor head control, Myopathy, Skeletal muscle atrophy, Muscle weakness |
OMIM:614557 |
Paramyotonia Congenita Of Von Eulenburg |
|
Cold paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy |
ORPHA:684 |
Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Short stature, Arthrogryposis... |
ORPHA:168572 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Ventricular septal defect, Skeletal muscle atrophy, Intrau... |
ORPHA:506 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Myopathy, Intracranial hemorrhage, Skeletal muscle atrophy, Short stature, Muscle... |
ORPHA:109 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Muscle weakness, Hypotension |
ORPHA:319213 |
Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Growth delay, Cardiomyopathy, Left ventricular hypertrophy, Con... |
OMIM:242840 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Growth delay, Short stature, Aborted sudden ca... |
OMIM:614921 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia |
ORPHA:90673 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Myopathy, Growth delay, Calf muscle hypertrophy |
ORPHA:261476 |
Localized Scleroderma |
|
Myopathy, Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Arrhythmia |
ORPHA:90289 |
Acquired Generalized Lipodystrophy |
|
Hypertension, Myopathy, Cardiomyopathy, Abnormal cardiovascular system physiology, Calf muscle ps... |
ORPHA:79086 |
Pseudoachondroplasia |
|
Disproportionate short-limb short stature, 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 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Bradycardia, Growth delay |
ORPHA:90674 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Myopathy, Abnormal heart morphology, Arthrogryposis multiplex congenita, M... |
ORPHA:2953 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal hemidiaphragm morphology, Reduced ejection fraction, Systolic heart ... |
ORPHA:980 |
Sheehan Syndrome |
|
Orthostatic hypotension, Muscle weakness, Bradycardia, Palpitations |
ORPHA:91355 |
Usher Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rhabdomyolysis, Tachycardia, Hypotension |
OMIM:145600 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Myopathy, Cerebral hemorrhage, Skeletal muscle atrophy, Ante... |
ORPHA:536545 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hypertension, Pericardial effusion, Retinal hemorrhage, Subdural hemorrhage, Subconj... |
ORPHA:99827 |
Wolfram Syndrome |
|
Myopathy, Cardiomyopathy, Gastrointestinal hemorrhage, Ophthalmoplegia, Delayed puberty |
ORPHA:3463 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... |
ORPHA:26793 |
Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Mitral valve prolapse, Wrist drop, Limb muscle weakness, Arterial rupture,... |
ORPHA:1900 |
Idiopathic Camptocormia |
|
Myositis, EMG: myopathic abnormalities, Proximal spinal muscular atrophy, Abnormal muscle fiber d... |
ORPHA:1320 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contract... |
OMIM:618733 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Atrioventricular canal defect, EMG: myopathic abnormalities, Short stature |
ORPHA:2549 |
Lethal Congenital Contracture Syndrome 9 |
|
Myopathy, Congenital contracture, Intrauterine growth retardation, Abnormality of the diaphragm |
OMIM:616503 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Schwartz-Jampel Syndrome |
|
Myopathy, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Flexion contrac... |
ORPHA:800 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypertension, Myopathy, Gastrointestinal hemorrhage, Congestive heart failure |
ORPHA:85450 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Muscle weakness, Tachycardia |
OMIM:613239 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Growth delay, Failure to thrive, Increased int... |
ORPHA:17 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Bradycardia, Growth delay |
OMIM:218700 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Intrauterine growth retardation, Hip contracture, Short stature, EMG: myopathic abnormalities, Kn... |
ORPHA:371364 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ophth... |
ORPHA:171430 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
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 |
Abetalipoproteinemia |
|
Myopathy, Cardiomegaly, Congestive heart failure, Ophthalmoplegia, Distal lower limb muscle weakness |
ORPHA:14 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Congenital diaphragmatic hernia, Bradycardia |
OMIM:614437 |
Dermatomyositis |
|
Myocarditis, Proximal muscle weakness, Pericarditis, Pulmonary arterial hypertension, Telangiecta... |
ORPHA:221 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Pituitary dwarfism, Bradycardia, Growth delay |
ORPHA:226307 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature |
ORPHA:3068 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
Bannayan-Riley-Ruvalcaba syndrome |
|
Myopathy, Postnatal growth retardation, Hematochezia |
OMIM:153480 |
Stromme Syndrome |
|
Myopathy, Stillbirth |
OMIM:243605 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Distal arthrogryposis, Myopathy, Diaphragmatic eventration |
OMIM:618975 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Internal ... |
ORPHA:99826 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
Microform Holoprosencephaly |
|
Intrauterine growth retardation, Tetralogy of Fallot, EMG: myopathic abnormalities, Short stature |
ORPHA:280200 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation |
OMIM:261990 |
Alpha-Mannosidosis, Infantile Form |
|
Myopathy, Mitral regurgitation, Macroglossia, Aortic regurgitation, Facial hypotonia |
ORPHA:309282 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, ... |
ORPHA:137675 |