Myopathy, Myofibrillar, 4 |
|
Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma... |
OMIM:609452 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Ankle weakness, He... |
ORPHA:98912 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Mildly elevated creatine k... |
OMIM:617030 |
Distal Myopathy With Anterior Tibial Onset |
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Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle... |
ORPHA:178400 |
Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Progr... |
ORPHA:399103 |
Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Progressive distal muscle weakness, Multiple joint contracture... |
ORPHA:98911 |
Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... |
OMIM:614065 |
Laing Early-Onset Distal Myopathy |
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Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... |
ORPHA:59135 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... |
OMIM:310300 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
Desminopathy |
|
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Fatigab... |
ORPHA:98909 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... |
OMIM:181350 |
Distal Myopathy, Welander Type |
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Rimmed vacuoles, Distal upper limb muscle weakness, Mildly elevated creatine kinase, Distal upper... |
ORPHA:603 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... |
OMIM:605820 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... |
OMIM:609115 |
Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... |
OMIM:617336 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr... |
OMIM:609273 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy, Elevated circulating creatine kinase ... |
OMIM:609500 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... |
ORPHA:399096 |
Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
Congenital Myopathy 10B, Mild Variant |
|
Increased variability in muscle fiber diameter, Neck muscle weakness, Limb muscle weakness, Type ... |
OMIM:620249 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618848 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Ele... |
OMIM:609524 |
Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... |
OMIM:618940 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Progressive dist... |
ORPHA:399086 |
Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Proximal muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakne... |
OMIM:616231 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... |
OMIM:500002 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co... |
OMIM:611588 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Congestive heart failure, Muscl... |
OMIM:618654 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... |
ORPHA:97240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... |
OMIM:616471 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
Danon Disease |
|
Limb muscle weakness, Proximal muscle weakness, Skeletal muscle autophagosome accumulation, Hyper... |
OMIM:300257 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... |
OMIM:302045 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:606768 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prox... |
ORPHA:98896 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
Carnitine Deficiency, Myopathic |
|
Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... |
ORPHA:254361 |
Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... |
ORPHA:171445 |
Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... |
ORPHA:97244 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:619024 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Third degree atrioventricular block, Skeletal muscle atroph... |
ORPHA:480 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... |
OMIM:300717 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic card... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Distal muscle weakness |
OMIM:604454 |
Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... |
ORPHA:270 |
Atrial Standstill |
|
Atrial standstill, Muscular dystrophy, Skeletal muscle atrophy, Abnormal P wave, Cardiomyopathy, ... |
ORPHA:1344 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc... |
OMIM:255100 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... |
ORPHA:1878 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... |
OMIM:160565 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Increased serum pyruvate, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Progressive distal... |
ORPHA:399081 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98855 |
Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Left ventricular noncompaction, Left ventricular noncompaction cardiomy... |
OMIM:604169 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... |
OMIM:600334 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... |
ORPHA:424107 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... |
OMIM:620285 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98853 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... |
OMIM:610687 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... |
OMIM:613204 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98863 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre... |
OMIM:151800 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator... |
OMIM:300580 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... |
OMIM:300376 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... |
OMIM:609284 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... |
ORPHA:641 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creati... |
OMIM:164300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progres... |
OMIM:609286 |
Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... |
ORPHA:610 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Myasthenic Syndrome, Congenital, 5 |
|
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:603034 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... |
OMIM:611307 |
Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... |
ORPHA:2596 |
Oculopharyngodistal Myopathy |
|
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Dis... |
ORPHA:98897 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
OMIM:619216 |
Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy... |
OMIM:612954 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... |
ORPHA:353327 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:601493 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:616209 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Muscle weakness, Myopathy |
OMIM:616314 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... |
OMIM:619477 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618992 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Left ventricular hypertrophy, Prolonged PR interval |
OMIM:108900 |
Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... |
OMIM:610099 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Elevated circulating cr... |
ORPHA:119 |
Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... |
ORPHA:99106 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... |
ORPHA:171439 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Myopathy, Ventricular preexcitation |
ORPHA:104 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ... |
OMIM:613507 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy |
OMIM:613158 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:160570 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
Central Core Disease |
|
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... |
ORPHA:597 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... |
OMIM:602541 |
Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... |
ORPHA:169186 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Axial muscle weakness, Arrhythmia, P... |
ORPHA:157973 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... |
ORPHA:206559 |
Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... |
OMIM:256030 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc... |
OMIM:615348 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration |
OMIM:607091 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ophthalmoparesis, Skeletal muscle atrophy, Myopathy, Generalized muscle weakness, Weakness of fac... |
ORPHA:254875 |
Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... |
OMIM:619790 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... |
OMIM:115197 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Arterial rupture, Myopathy, Elevated circulating creatine kinase concent... |
ORPHA:300179 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... |
OMIM:613752 |
Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... |
OMIM:248800 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... |
OMIM:605809 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Mildly elevated creat... |
OMIM:161800 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular h... |
OMIM:540000 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... |
ORPHA:254864 |
Nathalie Syndrome |
|
Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... |
ORPHA:263297 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... |
OMIM:610542 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... |
ORPHA:397744 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... |
OMIM:615980 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Myopathy, Progressive external ophthalmoplegia, Limb-girdle muscle w... |
ORPHA:352470 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia |
ORPHA:366 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre... |
OMIM:614399 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Rhabdomyolysis, Elevated cir... |
OMIM:212138 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... |
OMIM:620161 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Flexion contracture, Myopathy, Generalized amyotrophy |
OMIM:618323 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Ventricular bigeminy, Limb muscle weakness, Elevated circulating creatine kinase concentration, P... |
OMIM:610131 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness... |
OMIM:608627 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy... |
ORPHA:238329 |
Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... |
OMIM:619040 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... |
OMIM:613530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Proximal muscle weakness |
OMIM:551500 |
Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:263494 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Generalized muscle weakness, ... |
OMIM:255310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Ophthalmoparesis, Shoulder girdle muscle weakness, Myopathy, Elevated circulating creatine kinase... |
OMIM:615156 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... |
OMIM:617069 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Progressive muscle ... |
OMIM:620166 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Elevated circulating creati... |
ORPHA:368 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... |
OMIM:613205 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... |
OMIM:123320 |
Infantile Refsum Disease |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhythmia, Progressive muscle ... |
ORPHA:772 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... |
ORPHA:254886 |
Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Neck muscle weakness, Increased muscle lipid conte... |
OMIM:500009 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Generalized limb muscle atrophy, Ragged-red muscle ... |
OMIM:600462 |
Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
Glycogen Storage Disease Iii |
|
Distal amyotrophy, Cardiomyopathy, Hyperlipidemia, Myopathy, Elevated circulating creatine kinase... |
OMIM:232400 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Eleva... |
ORPHA:352447 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... |
OMIM:614807 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... |
OMIM:616816 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia, Episodic flaccid weakness, Muscle weakness, Myopathy |
OMIM:170400 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Elevated circu... |
OMIM:603511 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... |
OMIM:157640 |
Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Cardiomyopathy, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder ... |
ORPHA:98908 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
Developmental And Epileptic Encephalopathy 101 |
|
Poor head control, Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Fa... |
ORPHA:171881 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... |
ORPHA:369840 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Congenital Myopathy 16 |
|
Proximal muscle weakness, Axial muscle weakness, Scapular winging, Flexion contracture, Distal mu... |
OMIM:618524 |
Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... |
OMIM:154275 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... |
ORPHA:98913 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Elev... |
OMIM:617070 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Elevated circulating creatine kin... |
OMIM:301830 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Facial diplegia, Foot dor... |
ORPHA:329478 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Palpit... |
OMIM:255125 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Ophthalmoparesis, Second degree atrioventricular block, Lower limb muscle w... |
ORPHA:79102 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind... |
OMIM:154276 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Myopathy |
OMIM:615511 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern... |
OMIM:530000 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
Hyperkalemic Periodic Paralysis |
|
Ophthalmoparesis, Skeletal muscle atrophy, Congestive heart failure, Episodic flaccid weakness, M... |
ORPHA:682 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... |
OMIM:615344 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... |
ORPHA:171436 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure |
OMIM:616794 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... |
OMIM:609560 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac... |
ORPHA:370980 |
Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Extremely elevated cre... |
ORPHA:99939 |
Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w... |
OMIM:255200 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... |
OMIM:607426 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne... |
ORPHA:329336 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:401768 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome |
OMIM:618234 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Generalized muscle weakness, Pulmonary arterial hypertensi... |
OMIM:212350 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Myopathy |
ORPHA:26792 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... |
OMIM:615418 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy |
OMIM:618237 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... |
OMIM:607855 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Facial diplegia, First degree atrioventricular block, Atrial fibrillation, Muscle... |
OMIM:160900 |
Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... |
ORPHA:171433 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia |
OMIM:614407 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Exer... |
ORPHA:26793 |
Dk1-Cdg |
|
Progressive muscle weakness, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:91131 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... |
OMIM:608840 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... |
ORPHA:52430 |
Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... |
OMIM:615959 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... |
OMIM:617228 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Hypophosphatasia, Childhood |
|
Elevated plasma pyrophosphate, Myopathy |
OMIM:241510 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... |
OMIM:212140 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618236 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia |
OMIM:125250 |
Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, External ophthalmoplegia, Distal amyotrophy, Skeletal muscl... |
ORPHA:3208 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... |
OMIM:606612 |
Glycogen Storage Disease X |
|
Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228305 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Progressi... |
OMIM:615919 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Mildly e... |
OMIM:258450 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Hyperammonemia, Myopathy, Elevated circulating creatine kinase concentra... |
ORPHA:42 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... |
ORPHA:178148 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ... |
ORPHA:272 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... |
ORPHA:99901 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellula... |
ORPHA:681 |
Timothy Syndrome |
|
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... |
OMIM:601005 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... |
ORPHA:2020 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... |
ORPHA:596 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Progressive muscle weakness, Respira... |
OMIM:615512 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Hypocalcemia, Myopathy |
ORPHA:2238 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... |
ORPHA:398124 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
Synaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... |
ORPHA:98915 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... |
OMIM:619424 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Axial Osteomalacia |
|
Proximal muscle weakness, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... |
OMIM:164310 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur... |
OMIM:609015 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myopathy |
OMIM:201550 |
Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Congestive heart fai... |
OMIM:310200 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Progressive proximal muscle weakness, Myopathy |
ORPHA:369847 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Cardiomyopathy, Myopathy |
OMIM:616549 |
Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... |
OMIM:254090 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Rhabdomyolysis, Myopathy, Reduced haptoglobin level, Elev... |
OMIM:300842 |
Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Shoulder girdle muscle weakness, Abnormal circulating creatine kinase concentrati... |
ORPHA:98907 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... |
OMIM:115195 |
Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... |
OMIM:617258 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Carcinoid Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Right ventricular failure, Tricusp... |
ORPHA:100093 |
Classic Multiminicore Myopathy |
|
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... |
ORPHA:324604 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive external ophthalmoplegia, Cardiomyopathy, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase... |
OMIM:616239 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Prog... |
ORPHA:79240 |
Lyme Disease |
|
Arrhythmia, Muscle weakness, Atrioventricular block |
ORPHA:91546 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... |
OMIM:607459 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Cardiomyopathy, Congestiv... |
OMIM:616866 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Diaphragmatic weakness, EMG: myopathic abnormalities, Elevated circu... |
OMIM:620326 |
Gitelman Syndrome |
|
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ... |
ORPHA:358 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Lower limb muscle weakness, Generalized muscle weakness, Gowers sign, Fatigable weakness of swall... |
ORPHA:365 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ophthalmoparesis, Skeletal muscle atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, ... |
OMIM:616479 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Spinocerebellar Ataxia With Epilepsy |
|
Ophthalmoparesis, Hyperalaninemia, Myopathy |
ORPHA:254881 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
Scleromyxedema |
|
Transient ischemic attack, Abnormal skeletal muscle morphology, Myopathy, Elevated circulating cr... |
ORPHA:167635 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Facial hypotonia, Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Muscle weakness, Myopathy |
OMIM:300653 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Prog... |
ORPHA:264580 |
Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Hyperuricemia, Hypertriglyceride... |
ORPHA:79083 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lower limb muscle weakness, Cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Pr... |
ORPHA:746 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoparesis, Muscle flaccidity, Oculomotor nerve palsy, Fatigable weakness, Myopathy, Ophtha... |
ORPHA:257 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
Leber Optic Atrophy |
|
Arrhythmia, Myopathy |
OMIM:535000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myopathy, Cardiac ar... |
OMIM:604377 |
Arts Syndrome |
|
Progressive muscle weakness |
OMIM:301835 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Steinert Myotonic Dystrophy |
|
Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Dilated cardiomyopa... |
ORPHA:273 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy |
ORPHA:1177 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Muscle weakness, Myopathy |
ORPHA:166002 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Left ventri... |
OMIM:615474 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:261740 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Hypertriglyceridemia, Abnormalit... |
ORPHA:2348 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Rhabdomyolysis, Muscle weakness, Myopathy |
ORPHA:713 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... |
OMIM:619461 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... |
OMIM:616720 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Elevated circulatin... |
OMIM:602668 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:559 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Porta... |
ORPHA:367 |
Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Muscle weakness, Limb muscle weakness, Shortened PR interval, El... |
OMIM:232300 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Myopathy, Hypertriglyceridemia |
ORPHA:363400 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Hyperphosphatemia, Exercise-induced rhabdomyolysis, High-output congestive ... |
ORPHA:423 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Increased total bilirubin, Hyperuricemia, Elevate... |
OMIM:232800 |
Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... |
OMIM:224700 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Abnormal circulating lipid concentration, Diastasis recti, Progressive m... |
ORPHA:488632 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Progressive externa... |
OMIM:617713 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypomagnesemia, Hypophosphatemic ricke... |
OMIM:619743 |
Cystinosis |
|
Portal hypertension, Myopathy, Hypokalemia, Hypophosphatemia, Muscle weakness |
ORPHA:213 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Cardiomyopathy, Abnormality of the shoulder girdle musculature, Palpitations, Hy... |
ORPHA:565612 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Neck muscle weakness, Increased muscle lipid content, Myopathy, Elevated circulat... |
OMIM:610717 |
Refsum Disease |
|
Skeletal muscle atrophy, Cardiomyopathy, Heart block |
ORPHA:773 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
ORPHA:268 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:157 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Fabry Disease |
|
Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper... |
ORPHA:324 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Ophthalmoparesis, Dilated cardiomyopathy, Quadriceps muscle weakness, S... |
ORPHA:254892 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... |
ORPHA:600 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block |
OMIM:617021 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
External ophthalmoplegia, Cardiomyopathy, Myopathy, Weakness of facial musculature, Flexion contr... |
OMIM:201470 |
Chanarin-Dorfman Syndrome |
|
Muscle weakness, Myopathy |
OMIM:275630 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Hypokalemia, Pulmonary arterial hypertension, In... |
ORPHA:369929 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... |
ORPHA:542323 |
Stormorken Syndrome |
|
Epistaxis, Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentration... |
OMIM:185070 |
Barth Syndrome |
|
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... |
OMIM:302060 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Hyperbilirubinemia, Myopathy, Reduced haptoglobin... |
OMIM:611881 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, External ophthalmoplegia |
OMIM:619026 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Muscle weakness, Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Elevated circu... |
ORPHA:308552 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Dilated cardiomyopathy, Ragged-... |
ORPHA:70595 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Ophthalmoplegia, EMG: myopathic abnormalities, Muscle weakness |
ORPHA:457365 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Weakness of faci... |
ORPHA:502423 |
Paramyotonia Congenita Of Von Eulenburg |
|
Abnormal blood potassium concentration, EMG: myopathic abnormalities, Cold paresis, Facial muscle... |
ORPHA:684 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Hypertension |
ORPHA:371428 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Progressive external ophthalmoplegia, Myopathy |
OMIM:613077 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Proximal muscle weakness, Limb-girdle mu... |
OMIM:112250 |
Carey-Fineman-Ziter Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Oculomotor nerve palsy, Pectoralis hypopl... |
OMIM:254940 |
Muscle-Eye-Brain Disease |
|
Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Abnormal circulating lipid concentration, Abnormal cardiovascular system physiolo... |
ORPHA:79086 |
Immunodeficiency 9 |
|
Gowers sign, Respiratory insufficiency due to muscle weakness, Myopathy, Proximal muscle weakness |
OMIM:612782 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Decr... |
ORPHA:280365 |
Caribbean Parkinsonism |
|
EMG: myopathic abnormalities, Orthostatic hypotension |
ORPHA:97355 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Xanthinuria, Type I |
|
Hypouricemia, Hyperxanthinemia, Myopathy |
OMIM:278300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, Ophthalmoplegia, Scapular winging |
ORPHA:98673 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... |
OMIM:620066 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Poor head control, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominan... |
OMIM:612949 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:98914 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Progressive muscle weakness, Skeletal muscle atrophy, Distal muscle weakness |
OMIM:256810 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... |
ORPHA:99104 |
Optic Atrophy 11 |
|
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Facial diplegia,... |
OMIM:617302 |
Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated c... |
OMIM:616538 |
Melas |
|
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... |
ORPHA:550 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Hyperoxaluria, Intermittent claudication, Raynaud phe... |
OMIM:259900 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis, Skeletal muscle atrophy, Myopathy, Facial palsy, Aplasia of the pectoralis m... |
ORPHA:1358 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, EMG: myopathic abnormalities, Myopathy |
ORPHA:71 |
Mucopolysaccharidosis Type 3 |
|
Atrioventricular block, Reduced left ventricular ejection fraction, Macroglossia, Flexion contrac... |
ORPHA:581 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Second degree atrioventricular block |
OMIM:108800 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Poor head control, Increased variability in muscle fiber diameter |
OMIM:615595 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat... |
ORPHA:85450 |
Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... |
ORPHA:1880 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Myopathy |
OMIM:614922 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber predominance, Mitral regurg... |
OMIM:614557 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Myopathy, Elevated circulating creatine kinase concentration, Calf muscle ... |
ORPHA:261476 |
Localized Scleroderma |
|
Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture |
ORPHA:90289 |
Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... |
ORPHA:168572 |
Idiopathic Camptocormia |
|
Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal muscle fiber d... |
ORPHA:1320 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr... |
OMIM:618733 |
Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Arrhythmia, First degree atrioventricular bloc... |
ORPHA:509 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Muscle weakness, Elevated circ... |
OMIM:617675 |
Usher Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy |
ORPHA:886 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Muscle weakness, Myopathy, Telangiectasia, Angina pectoris, Intracranial... |
ORPHA:109 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Abnormal EKG, Hyperammonemia, Elevated circulat... |
ORPHA:480864 |
Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Congestive heart failure, Hypoplasia of the diaphragm, Pulmona... |
ORPHA:185 |
Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... |
ORPHA:93672 |
Leopard Syndrome 1 |
|
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Scapular w... |
OMIM:151100 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co... |
ORPHA:506 |
Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia, Myopathy |
ORPHA:3467 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir... |
ORPHA:14 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Myopathy |
ORPHA:2323 |
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle weakness, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arte... |
ORPHA:1900 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Camptodactyly, Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation |
OMIM:619576 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Arrhythmia, Cardiomyopathy, Heart block |
ORPHA:228308 |
Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, Heart block |
ORPHA:175 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Aplasia/Hypoplasia of the abdominal... |
ORPHA:500 |
Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Heart block |
OMIM:617063 |
Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva... |
OMIM:613150 |
Primary Hyperoxaluria |
|
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block |
ORPHA:416 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Hypokalemia, Pulmonary arterial hype... |
OMIM:619573 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita, Muscle weakness, Decreased muscle mass |
ORPHA:2953 |
Wolfram Syndrome |
|
Ophthalmoplegia, Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy |
ORPHA:3463 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Hip contractu... |
ORPHA:800 |
Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... |
ORPHA:2299 |
Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Elevated circulating ... |
OMIM:242840 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa... |
ORPHA:17 |
Dermatomyositis |
|
Vasculitis, Sinus tachycardia, Inflammatory myopathy, Elevated circulating creatine kinase concen... |
ORPHA:221 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Subdural hemorrhage, Arterial rupture, Myopathy, Cerebral hemorrhage, An... |
ORPHA:536545 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval |
OMIM:614947 |
Congenital Myopathy 17 |
|
Distal arthrogryposis, Myopathy, Diaphragmatic eventration |
OMIM:618975 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Elbow flexion contracture, Knee flexion contracture, EMG: myopathic abnormalities, Hip contracture |
ORPHA:371364 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Macroglossia, Torticollis |
OMIM:617022 |
Interatrial Communication |
|
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... |
ORPHA:1478 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Mitral regurgitation, Myopathy, Facial hypotonia, Macroglossia |
ORPHA:309282 |
African Trypanosomiasis |
|
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... |
ORPHA:3385 |
Lambert-Eaton Myasthenic Syndrome |
|
Orthostatic hypotension due to autonomic dysfunction, Progressive proximal muscle weakness |
ORPHA:43393 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonic stenosis, Pulmonary arterial hypertension, Mitral regurgitation, Myopathy |
OMIM:612541 |
Glycerol Kinase Deficiency |
|
Hyperglycerolemia, Muscular dystrophy, Myopathy, Hypertriglyceridemia |
OMIM:307030 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... |
OMIM:614008 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red m... |
ORPHA:255210 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia |
ORPHA:2131 |
Marbach-Rustad Progeroid Syndrome |
|
Pulmonary insufficiency, Right bundle branch block |
OMIM:619322 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Skeletal muscle atrophy, Hypomagnesemia, Hypophosp... |
OMIM:219800 |
Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Muscle fiber atrophy, Myopath... |
ORPHA:2388 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Diastasis recti, Mit... |
ORPHA:1686 |
Eisenmenger Syndrome |
|
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... |
ORPHA:97214 |
Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
Holt-Oram Syndrome |
|
Small hypothenar eminence, Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy... |
OMIM:142900 |
Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy |
OMIM:162300 |
Sarcoidosis |
|
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... |
ORPHA:797 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Simpson-Golabi-Behmel Syndrome |
|
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Congenital diaphragmatic hernia, Ap... |
ORPHA:373 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Joint contracture, Camptodactyly, Right bu... |
OMIM:617403 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Congestive heart failure, Hypertrophic cardiomyopathy, ... |
ORPHA:904 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... |
OMIM:617506 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
1P36 Deletion Syndrome |
|
Telangiectasia, Dilated cardiomyopathy, Myopathy, Camptodactyly of finger |
ORPHA:1606 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass |
OMIM:234200 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Flexion contracture, Hip contracture, Myopathy |
ORPHA:3042 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Knee flexion contracture, Camptodactyly, Right bun... |
OMIM:617402 |
Pearson Syndrome |
|
Cardiac conduction abnormality, Cardiomyopathy |
ORPHA:699 |
Proteus Syndrome |
|
Myofibrillar myopathy, Sudden cardiac death, Pulmonary embolism, Decreased muscle mass |
ORPHA:744 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis |
ORPHA:353277 |