| Myopathy, Myofibrillar, 3 |
|
Proximal muscle weakness, Achilles tendon contracture, Progressive distal muscle weakness, Muscle... |
OMIM:609200 |
| Myopathy, Distal, 4 |
|
Proximal muscle weakness, Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of th... |
OMIM:614065 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal upper limb muscle weakness, Weakness of facial musculature, Myopat... |
OMIM:617030 |
| Distal Myopathy, Welander Type |
|
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, EMG: myopathic abnor... |
ORPHA:603 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Late-onset proximal muscle weakn... |
OMIM:601419 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammator... |
ORPHA:611 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Proximal muscle weakness, Torticollis, Elbo... |
OMIM:158810 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal muscle weak... |
OMIM:605820 |
| Myopathy With Giant Abnormal Mitochondria |
|
Growth delay, Myopathy, Proximal muscle weakness, Limb-girdle muscle atrophy |
OMIM:255140 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc... |
OMIM:608358 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Inclusion Body Myositis |
|
Proximal muscle weakness, Inflammatory myopathy, Distal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Nemaline Myopathy 6 |
|
Neck flexor weakness, Nemaline bodies, Myopathy, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:609273 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
| Scapuloperoneal myopathy, myh7-related |
|
Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities |
OMIM:181430 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscular dystrophy, Ske... |
OMIM:614302 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Generalized muscle weakness... |
OMIM:611705 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Dilated ca... |
OMIM:612937 |
| Myopathy, spheroid body |
|
Neck flexor weakness, Proximal muscle weakness, Muscle weakness, Distal muscle weakness, Myopathy... |
OMIM:182920 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:612999 |
| Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:614321 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmat... |
OMIM:609524 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal muscle weakness, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Rag... |
OMIM:500002 |
| Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... |
ORPHA:399103 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Proximal muscle weakness, Myo... |
OMIM:255100 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Proximal muscle weakness, Autophagic vacuoles, Gowers sign, Torticollis, ... |
ORPHA:97240 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
| Multiminicore Myopathy |
|
External ophthalmoplegia, Short stature, Abnormal muscle fiber morphology, Congenital muscular dy... |
ORPHA:598 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:605637 |
| Rigid Spine Syndrome |
|
Hip contracture, Gowers sign, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Cardi... |
ORPHA:97244 |
| Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... |
OMIM:618940 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... |
OMIM:609452 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Proximal muscle weakness, Multiple joint contractures, Rhabdomyolysis, Ophthalmoplegia, Fatigable... |
ORPHA:424107 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:266 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Mu... |
OMIM:616471 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Proximal muscle weakness |
OMIM:606768 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
OMIM:608807 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy, Growth delay |
OMIM:613933 |
| Nemaline Myopathy 7 |
|
Knee flexion contracture, Fatty replacement of skeletal muscle, Gowers sign, Shoulder girdle musc... |
OMIM:610687 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Achilles tendon contrac... |
OMIM:300696 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopa... |
OMIM:300580 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, C... |
OMIM:254110 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Progressive distal muscle w... |
ORPHA:399081 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... |
OMIM:300695 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Neck flexor weakness, Lower ... |
ORPHA:171442 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Generalized muscle weakness, Flexion contracture, Proximal muscle weakness, Distal lower limb amy... |
OMIM:609284 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l... |
OMIM:608810 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Distal upper limb muscle weakness, Flexion contracture, EMG: myopathic abnormalities, Foot dorsif... |
OMIM:619216 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, Abnormal muscle fiber myotilin... |
ORPHA:98911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Distal upper limb muscl... |
OMIM:619566 |
| Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Progressive distal muscle weakness, Weakness of t... |
ORPHA:488650 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Shor... |
OMIM:619042 |
| Myasthenic Syndrome, Congenital, 5 |
|
Generalized muscle weakness, Decreased muscle mass, Ophthalmoparesis, Fatigable weakness, Type 1 ... |
OMIM:603034 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Muscle weakness, Myopathy |
OMIM:616314 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ex... |
OMIM:160565 |
| Neutral Lipid Storage Disease With Myopathy |
|
Proximal muscle weakness, Short stature, Gowers sign, Neck muscle weakness, Myopathy, Increased m... |
OMIM:610717 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
| Oculopharyngeal Muscular Dystrophy |
|
Ophthalmoplegia, Abnormal muscle fiber morphology, Myopathy, Rimmed vacuoles, Ragged-red muscle f... |
ORPHA:270 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Sinus tachycardia... |
OMIM:255160 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Generalized muscle weakness, Progressive external ophthalmoplegia, EMG: myopathic abnormalities, ... |
OMIM:609283 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Muscle we... |
OMIM:602541 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Fatty replacement of... |
ORPHA:34516 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Proximal muscle weakness, Generalized amyotrophy, Progressive proximal muscle weakness, Shoulder ... |
OMIM:167320 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... |
ORPHA:86812 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Neck flexor weakness, Pro... |
OMIM:603689 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Proximal muscle weakness, Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy,... |
OMIM:611307 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Proximal muscle weakn... |
ORPHA:353327 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... |
OMIM:616812 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Pr... |
OMIM:616924 |
| Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Proximal muscle weak... |
OMIM:612954 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
| Nemaline Myopathy 5 |
|
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Nemaline Myopathy 8 |
|
Flexion contracture, Ophthalmoparesis, Nemaline bodies, Muscle weakness, Myofibrillar myopathy, F... |
OMIM:615348 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, Neck flexor weakness, ... |
ORPHA:263297 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Myopathy, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Fatigable weakness, Myopathy, Type 2 muscle fiber atrophy, Bulbar palsy, Limb m... |
OMIM:605809 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia, Poo... |
ORPHA:157973 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
| Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Congestive heart failure, Muscle fiber necrosis, Myositis, EMG: myopathic abn... |
ORPHA:206569 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, O... |
OMIM:618654 |
| Central Core Disease |
|
Multiple joint contractures, Ophthalmoplegia, Mitral valve prolapse, Central core regions in musc... |
ORPHA:597 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Fatigable weakness of bulbar muscles, Flexion con... |
ORPHA:171439 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Extern... |
OMIM:160150 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ophthalmoplegia, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart f... |
OMIM:540000 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
| Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Centr... |
OMIM:619178 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Nemaline bodies, Arthrogry... |
OMIM:256030 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Short stature |
ORPHA:366 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Myopathy, Distal, 3 |
|
Late-onset proximal muscle weakness, Joint contracture of the hand, Muscular dystrophy, EMG: myop... |
OMIM:610099 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... |
ORPHA:437572 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Gowers sign, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy... |
OMIM:310440 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, EMG: my... |
OMIM:609286 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiomyopathy, Muscle weakness, ... |
OMIM:616276 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Proportionate short stature, Myopathy |
ORPHA:50817 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Right ventricular dilatation, Left... |
OMIM:614022 |
| Sengers Syndrome |
|
Muscle weakness, Hypertrophic cardiomyopathy, Myopathy, Growth delay |
OMIM:212350 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,... |
OMIM:253601 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... |
ORPHA:276435 |
| Danon Disease |
|
Proximal muscle weakness, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-Wh... |
OMIM:300257 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Proximal muscle weakness |
OMIM:551500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy, Intrauterine growth retardation |
OMIM:618246 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Proximal muscle weakness, Centrally nucle... |
OMIM:618823 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Generalized amyotrophy, Gowers sign, Ophthalmoparesis, Progressive external... |
OMIM:615156 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Generalized muscle weakness, Neck flexor weakness, Proximal muscle weakness, Late-onset distal mu... |
OMIM:161800 |
| Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Flexion contracture,... |
OMIM:602771 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Short stature, Increased intramyocellular lipid droplets, Weakness of facial musculature, Distal ... |
ORPHA:457050 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Gowers sign, Progressive external ophth... |
ORPHA:352470 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Hypertrophic cardiomyopathy, Myopathy, Neonatal death, Intrauterine growth r... |
OMIM:618237 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Short stature, Muscle weakness, Myopathy, Distal amyotrophy, Cardiomyopathy |
OMIM:232400 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect, Respiratory ... |
OMIM:616816 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Muscle weakness, Myop... |
OMIM:615422 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy, Arrhythmia, Car... |
OMIM:300376 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Generalized muscle weakness, Spinal muscular atrophy, Ophthalmoparesis, Progressive external opht... |
ORPHA:254875 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Muscle weakness, Myopathy, Skeletal muscle atrophy, Poor head control, Arterial rupture |
ORPHA:300179 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Gowers sign, Pelvic gird... |
ORPHA:119 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go... |
ORPHA:353 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98855 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Short stature, Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:255320 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Muscle weakness, Myopathy, Increased muscle lipid content, Increased muscle glycoge... |
ORPHA:254864 |
| Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Distal upper limb muscle weakness, Flexion contracture, Proximal muscle... |
ORPHA:70 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... |
ORPHA:98853 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Congenital Myopathy 16 |
|
Flexion contracture, Proximal muscle weakness, EMG: myopathic abnormalities, Distal muscle weakne... |
OMIM:618524 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Int... |
OMIM:619048 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
| Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... |
ORPHA:98863 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Generalized muscle ... |
ORPHA:254361 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Genera... |
OMIM:255200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... |
OMIM:212138 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Weakness of long finger extensor muscles, Neck flexor weakness, Fatigable weakness of respiratory... |
ORPHA:98913 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers, Growth delay |
OMIM:618242 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
| Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic... |
ORPHA:171433 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
| Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Proximal muscle weakness, Muscle fiber atrophy, External ophthalmoplegia, Facial ... |
ORPHA:254886 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300718 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, In... |
OMIM:614654 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Generalized muscle weakness, Fatty replacement of skeletal muscle, Congenital muscular dystrophy,... |
ORPHA:370980 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Muscle weakness, Myopathy, Skeletal muscle atrophy, Rhabdomyolysis |
OMIM:615511 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy, Short stature |
ORPHA:408 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fatty replacement of skeletal muscle, Proximal muscle weakness, Weakness of the intrinsic hand mu... |
ORPHA:329478 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
| Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... |
OMIM:619790 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Abnormal atrioventricular conduction, Generalized muscle weakness, Skel... |
ORPHA:3208 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... |
OMIM:613507 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myopathy |
OMIM:613345 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Proximal muscle weakness, Lower limb muscle weakness, Muscular dystrophy, Hypertension, Muscle we... |
OMIM:615980 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Respiratory insufficie... |
OMIM:301830 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:397744 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Proximal muscle weakness, Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystro... |
OMIM:608840 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
ORPHA:75840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy |
OMIM:618236 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Dilated cardiomyopathy, Progressive external ophthalmoplegia, Weakness of... |
ORPHA:352447 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Generalized muscle weakness, Hip contracture, Spinal muscular atrophy, ... |
ORPHA:1145 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Progressive external ophthalmoplegia, Myopathy, Cardiomegaly, Cardi... |
OMIM:617713 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Muscle weakness, Myopathy |
OMIM:170400 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath... |
ORPHA:272 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Proximal muscle weakness, Lower limb muscle weakness, EMG: myopathic abnormalities, Distal muscle... |
ORPHA:99939 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
ORPHA:171436 |
| Developmental And Epileptic Encephalopathy 101 |
|
Poor head control, Bradycardia, Third degree atrioventricular block, Limb joint contracture |
OMIM:619814 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
| Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
| Aminoacylase 1 Deficiency |
|
Muscle weakness, Bradycardia |
OMIM:609924 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Gowers sign, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic ab... |
OMIM:609560 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Neonatal death, Failure to thrive |
OMIM:614096 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Delayed puberty, Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Proximal muscle weakness, Reduced muscle carnitine level, Congestive ... |
OMIM:212140 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Macroglossia, Congest... |
OMIM:261740 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Generalized muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Congenital muscul... |
OMIM:606612 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
| Hypophosphatasia, Childhood |
|
Myopathy, Short stature |
OMIM:241510 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Ophthalmoparesis, Increased intra... |
OMIM:255125 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia |
OMIM:125250 |
| Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
| Synaptic Congenital Myasthenic Syndromes |
|
Pulmonary arterial hypertension, Generalized muscle weakness, Proximal muscle weakness, Ophthalmo... |
ORPHA:98915 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Proximal muscle weakness, Fatigable weakness, Fatigable weakness of neck m... |
ORPHA:42 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, Short stature, Nemaline bodies, Myopathy, Cardiomyopathy |
OMIM:616549 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Flexion contracture,... |
OMIM:613327 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Arthrogryposis multiplex congenita, Minicore myopathy, Increased endomysial ... |
ORPHA:178148 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Ankle weakness, Distal uppe... |
ORPHA:600 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Short stature, Progressive muscl... |
OMIM:248800 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Muscle weakness, Myopathy, Short stature |
ORPHA:166002 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Poor head control, Arrhythmia, Prolonged PR inte... |
ORPHA:542306 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... |
OMIM:601005 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| King-Denborough Syndrome |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventr... |
OMIM:619542 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Short stature, Muscular d... |
OMIM:226670 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Skeletal muscle atrophy, Growth delay, Poor head control, Bradyc... |
OMIM:619272 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Intrauterine growth... |
OMIM:614702 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Muscle weakness, Myopathy, Arrhythmia, Cardiomyopathy |
ORPHA:228305 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... |
OMIM:154275 |
| Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Fatty replacement of skeletal muscle, Short stature, Gowers sign, Shoulder girdle... |
ORPHA:98908 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... |
OMIM:615418 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... |
OMIM:617114 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscula... |
ORPHA:369840 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Ophthalmoparesis, Congestive heart failure, Episodic flaccid weakness, Myopa... |
ORPHA:682 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:52430 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia, Cardiomyopathy |
ORPHA:1215 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Neonatal death, Arthrogryposis m... |
OMIM:619334 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... |
OMIM:154276 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Sp... |
OMIM:616867 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Bradycardia, Atrioventricular block, Joint contracture of the 5th finger |
OMIM:614407 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:607459 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Flexion contracture, Camptodactyly, Neonatal death |
OMIM:610015 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy, Short stature, Arrhythmia |
ORPHA:2238 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis |
OMIM:300653 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
| Illum Syndrome |
|
Bradycardia, Arthrogryposis multiplex congenita, Calcinosis |
OMIM:208155 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Cln3 Disease |
|
T-wave inversion, Bradycardia, Left ventricular hypertrophy |
ORPHA:228346 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Proximal muscle weakness, Muscle ... |
OMIM:258450 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Oculomotor nerve palsy, Ophthalmoparesis, Ophthalmoplegia, Fatigable weakness, Muscle flaccidity,... |
ORPHA:257 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Generalized muscle weakness, Fatigable weakness, Con... |
ORPHA:99901 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:610198 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy, Growth delay, Short stature |
OMIM:307030 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Macroglossia |
ORPHA:95717 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Proximal muscle weakness, Weakness of facial musculature, Muscle weakness, Myopathy, Skeletal mus... |
OMIM:616239 |
| Axial Osteomalacia |
|
Myopathy, Proximal muscle weakness |
OMIM:109130 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Progressive proximal muscle weakness, Myopathy, Right ventricular... |
ORPHA:369847 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Ventric... |
ORPHA:300751 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... |
ORPHA:596 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, ... |
ORPHA:559 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Generalized muscle weakness, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle... |
ORPHA:746 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Joint contracture, Limb hypertonia |
OMIM:614498 |
| Mcleod Syndrome |
|
Rhabdomyolysis, Dilated cardiomyopathy, Muscle weakness, Myopathy, Atrial fibrillation, Cardiomyo... |
OMIM:300842 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Generalized muscle weakness, Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, My... |
OMIM:609015 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, Increased variability in muscle fiber diameter, Cardiac arrest, Hypertrophic c... |
OMIM:604377 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Limb hypertonia, Muscle weakness, Poor head control, Bradycardia, I... |
ORPHA:565624 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Immunodeficiency 9 |
|
Myopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers sign |
OMIM:612782 |
| Barth Syndrome |
|
Endocardial fibroelastosis, Skeletal myopathy, Gowers sign, Congestive heart failure, Increased l... |
OMIM:302060 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy, External ophthalmoplegia, Abnormal mitral valve morphology |
ORPHA:1876 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Muscle weakness, Short stature, Ophthalmoplegia, EMG: myopathic abnormalities |
ORPHA:457365 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... |
ORPHA:169189 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Scleromyxedema |
|
Proximal muscle weakness, Hypoperistalsis, Abnormal skeletal muscle morphology, Transient ischemi... |
ORPHA:167635 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Paroxysmal atrial fibri... |
OMIM:164310 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Muscle weakness, Tachycardia, Palpitations, Rhabdomyolysis |
OMIM:188580 |
| Chanarin-Dorfman Syndrome |
|
Muscle weakness, Myopathy |
OMIM:275630 |
| Carcinoid Syndrome |
|
Facial telangiectasia, Heart murmur, Myopathy, Palpitations, Right ventricular failure, Tricuspid... |
ORPHA:100093 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Progressive proximal muscle weakness, Glycogen accumulation in muscle fiber lysos... |
ORPHA:368 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Muscle weakness, Myopathy, Rhabdomyolysis |
ORPHA:713 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Reduced left ventricular ejection fraction, Ophthalmoparesis, Ophthalmo... |
ORPHA:254892 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Abnormal muscle glycogen content, Congestive heart failure, Dilated cardiomy... |
ORPHA:367 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy... |
OMIM:619026 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Myopathy, Skeletal muscle atrophy, Short stature |
ORPHA:85329 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Macroglossia |
ORPHA:226313 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertension, Hypertrophic c... |
ORPHA:79083 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Short stature, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Myopathy,... |
ORPHA:98907 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pulmonary arterial hypertension, Oculomotor nerve palsy, Flexion contracture, Proximal muscle wea... |
OMIM:254940 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertrophic cardiomyopathy,... |
ORPHA:2348 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Macroglossia |
ORPHA:95716 |
| Cystinosis |
|
Short stature, Muscle weakness, Delayed puberty, Myopathy, Portal hypertension |
ORPHA:213 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Proximal muscle weakness, Neck flexor weakness, Generalized amyotrophy... |
OMIM:602668 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Skeletal myopathy, Coronary artery stenosis, Abnormality of the calf musculature, Abnormality of ... |
ORPHA:565612 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, External ophthalmoplegia, Weakness of facial musculature, Myopathy, Cardiomy... |
OMIM:201470 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Limb mu... |
OMIM:112250 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, Ventricular septal defect, Hypertension, Growth delay, I... |
OMIM:614653 |
| Primary Lipodystrophy |
|
Angina pectoris, Congestive heart failure, Hypertension, Myopathy, Skeletal muscle hypertrophy, C... |
ORPHA:90970 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... |
ORPHA:171881 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Stormorken Syndrome |
|
Proximal muscle weakness, Short stature, Epistaxis, Myopathy, Subarachnoid hemorrhage |
OMIM:185070 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Hypertension |
ORPHA:363400 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Abnormality of masseter muscle, Exercise-induced rhabdomyolysis, Pr... |
ORPHA:423 |
| Adrenomyodystrophy |
|
Myopathy, Short stature |
ORPHA:977 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Mu... |
OMIM:616866 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Cardiac shunt, Heart murmu... |
ORPHA:860 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Ophthalmoplegia, Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Scapular winging |
ORPHA:98673 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... |
OMIM:619461 |
| Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Short stature, Muscle wea... |
OMIM:611881 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Rhabdomyolysis, Progressive... |
OMIM:157640 |
| Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia of the pectoralis major muscle, Hypertensive crisis, Myopathy, Skeletal mu... |
ORPHA:1358 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Progressive external ophthalmoplegia |
OMIM:613077 |
| Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Generalized muscle weakness, Proximal muscle weakness, Muscle fiber ... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Generalized muscle weakness, Proximal muscle weakness, Muscle fiber ... |
ORPHA:98914 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal muscle weakness, Short stature, Type 2 muscle fiber predominance, Progressive external o... |
OMIM:619743 |
| Melas |
|
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, Short stature, Abnormal ... |
ORPHA:550 |
| Tetanus |
|
Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
| Snakebite Envenomation |
|
Hypotension, Rhabdomyolysis, Cerebral ischemia, Respiratory paralysis, Cardiogenic shock, Intracr... |
ORPHA:449285 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Rhabdomyolysis, Muscle weakness, Myopathy, Arrhythmia, Cardiomyopathy |
ORPHA:157 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... |
ORPHA:1329 |
| Scleroderma |
|
Pulmonary arterial hypertension, Gastrointestinal telangiectasia, Flexion contracture, Interstiti... |
ORPHA:801 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Necrotizing Enterocolitis |
|
Hypotension, Abnormal heart morphology, Bradycardia, Shock |
ORPHA:391673 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Ventricular arrhythmia, Supraventricular arrhythmia, Conges... |
ORPHA:280365 |
| Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Progressive muscle weakness, Muscle weakness, Myopathy, Skeletal muscle... |
OMIM:615512 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Cardiomyopathy |
OMIM:614922 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Short stature, Gowers s... |
ORPHA:502423 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Flexion contracture, Gowers sign, Hypertrophic cardio... |
ORPHA:365 |
| Congenital Myopathy 9A |
|
Short stature, EMG: myopathic abnormalities |
OMIM:618822 |
| Chylomicron Retention Disease |
|
Myopathy, Growth delay, EMG: myopathic abnormalities |
ORPHA:71 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Postnatal growth retardation, Supraventricular arrhythmia, Syncope... |
ORPHA:75249 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Intrauterine growth retardation, Joint contracture, Arthrogryposis multiplex... |
OMIM:618397 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| D-Glyceric Aciduria |
|
Bradycardia, Growth delay |
OMIM:220120 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Bilateral wrist flexion contracture, Facial hy... |
ORPHA:97297 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Growth delay |
OMIM:608800 |
| Leigh Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Ophthalmoplegia, Congestive heart failure... |
ORPHA:506 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Rhabdomyolysis, Hypertension, Hypertensive crisis, Arrhythmia, B... |
ORPHA:94093 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities |
ORPHA:684 |
| Sanjad-Sakati Syndrome |
|
Short stature, Myopathy, Postnatal growth retardation, Severe intrauterine growth retardation |
ORPHA:2323 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Short stature, Intracranial hemorrhage, Angina pectoris, Muscle weakness, Myopath... |
ORPHA:109 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| Optic Atrophy 11 |
|
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping, Short stature |
OMIM:617302 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Xp21 Deletion Syndrome |
|
Myopathy, Growth delay, Decreased muscle mass, Calf muscle hypertrophy |
ORPHA:261476 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Muscle weakness, Myocarditis, Bradycardia |
ORPHA:319213 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... |
OMIM:612949 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Type 1 muscle fiber predominance, Muscle weakness, Mitral regurgitation, Myopathy, Skeletal muscl... |
OMIM:614557 |
| Acquired Generalized Lipodystrophy |
|
Hypertension, Calf muscle pseudohypertrophy, Myopathy, Abnormal cardiovascular system physiology,... |
ORPHA:79086 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Arthrogryposis multiplex congenita, Muscle weakness, Myopathy, Abnormal he... |
ORPHA:2953 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
| Localized Scleroderma |
|
Flexion contracture, Raynaud phenomenon, Myopathy, Skeletal muscle atrophy, Arrhythmia, Vasculitis |
ORPHA:90289 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Ventricular septal defect,... |
OMIM:614921 |
| Pseudoachondroplasia |
|
Disproportionate short-limb short stature, Skeletal myopathy |
ORPHA:750 |
| Native American Myopathy |
|
Muscle fiber atrophy, Short stature, Abnormality of skeletal muscle fiber size, Camptodactyly, Sk... |
ORPHA:168572 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Macroglossia |
ORPHA:90673 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
| Usher Syndrome |
|
Abnormal cardiovascular system physiology, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:886 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Growth delay, Bradycardia, Macroglossia |
ORPHA:90674 |
| Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
| Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Muscle weakness, Bradycardia, Palpitations |
ORPHA:91355 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Generalized muscle weakness, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Elbow flexi... |
ORPHA:1900 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia, Rhabdomyolysis |
OMIM:145600 |
| Wolfram Syndrome |
|
Ophthalmoplegia, Delayed puberty, Myopathy, Gastrointestinal hemorrhage, Cardiomyopathy |
ORPHA:3463 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Proximal spinal muscular atrophy, EMG: myopathic abnormalit... |
ORPHA:1320 |
| Sepsis In Premature Infants |
|
Hypotension, Bradycardia, Tachycardia |
ORPHA:90051 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... |
OMIM:618733 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Short stature, Bicuspid aortic valve, Mu... |
ORPHA:536545 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Atrial septal def... |
OMIM:242840 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Atrioventricular canal defect, Short stature, EMG: myopathic abnormalities |
ORPHA:2549 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... |
ORPHA:99827 |
| Myopathy, Mitochondrial, And Ataxia |
|
Distal amyotrophy, Increased variability in muscle fiber diameter, Growth delay, Short stature |
OMIM:617675 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
