| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
| Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscle weakness, ... |
OMIM:253600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... |
OMIM:608099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Ventricular hypertrophy, Scapular winging, Proximal ... |
OMIM:601287 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... |
OMIM:158901 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy |
OMIM:612998 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Arrhythmia |
OMIM:310095 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... |
OMIM:609200 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... |
ORPHA:63273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... |
OMIM:603511 |
| Miyoshi Muscular Dystrophy 3 |
|
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy |
OMIM:613319 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital muscular dystrophy, Failure to thrive, Generalized amyotrophy, Flexion contracture |
OMIM:613205 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Dilated cardiomyopathy, Facial palsy, Centrally nuc... |
OMIM:611705 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:608807 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy |
OMIM:602541 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... |
OMIM:612954 |
| Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... |
OMIM:613155 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis |
ORPHA:565899 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Multiminicore Myopathy |
|
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... |
ORPHA:598 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... |
OMIM:619477 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
| Focal Myositis |
|
Weight loss, Myositis |
ORPHA:48918 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
| Glycogen Storage Disease 0, Muscle |
|
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... |
OMIM:611556 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Skin rash, Proximal muscle weakness in lower limbs, EMG: myopathic abnorma... |
ORPHA:206569 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:613723 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... |
OMIM:602771 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy |
ORPHA:459033 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy |
OMIM:616094 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... |
OMIM:618484 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... |
ORPHA:1878 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture |
ORPHA:62 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Hand muscle weakness, Increased endomysial connective tissue,... |
ORPHA:437572 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Flexion contracture |
OMIM:613869 |
| Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... |
OMIM:600884 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615350 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
| Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy, Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated car... |
OMIM:255310 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
| Eosinophilic Fasciitis |
|
Muscular edema, Myositis, Arthritis, Fasciitis, Weight loss |
ORPHA:3165 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Arrhythmia, Elbow flexion contracture |
OMIM:616516 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Keratitis, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:611588 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relatively smaller... |
ORPHA:596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... |
ORPHA:178400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... |
OMIM:608840 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy |
OMIM:302045 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
| Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... |
ORPHA:98911 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne |
ORPHA:69126 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:2926 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
| Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Tall stature, Scapular winging, Joint contracture of the 5th finger, Limb muscle... |
OMIM:617258 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Myopathy |
OMIM:615980 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shoulder girdle mus... |
OMIM:158900 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
| Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy |
OMIM:255100 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy |
ORPHA:320360 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Flexion contracture |
OMIM:613154 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Skeletal muscle autophagosome accumulation, Failure to thrive, Rimmed vacuoles, Centrally nucleat... |
OMIM:619518 |
| King-Denborough Syndrome |
|
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... |
OMIM:619542 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy |
OMIM:611615 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Obesity, Fatty replacement of skeletal muscle, Distal lo... |
ORPHA:171706 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Small fo... |
OMIM:615368 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Right ventricular hypertrop... |
ORPHA:324604 |
| Cysticercosis |
|
Stroke, Abnormal skeletal muscle morphology, Cerebral calcification, Abnormal myocardium morpholo... |
ORPHA:1560 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Marinesco-Sjogren Syndrome |
|
Failure to thrive, Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibe... |
OMIM:248800 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Slender build, Failure to thrive, Flexion contracture, Increa... |
OMIM:254090 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis |
OMIM:619183 |
| Idiopathic Camptocormia |
|
EMG: myopathic abnormalities, Osteoarthritis, Abnormal inflammatory response, Myelitis, Abnormal ... |
ORPHA:1320 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... |
OMIM:609452 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Genetic Recurrent Myoglobinuria |
|
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... |
ORPHA:99845 |
| Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Skin rash, Maculopapular exanthema, Erysipelas, Myositis, Conjunctivitis |
OMIM:142680 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... |
OMIM:606612 |
| Pyoderma Gangrenosum |
|
Pustule, Rheumatoid arthritis, Myositis, Inflammation of the large intestine |
ORPHA:48104 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Failure to thrive, Myopathy |
OMIM:618246 |
| Nemaline Myopathy 2 |
|
Slender build, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopath... |
OMIM:256030 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Congenital muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Limb muscle weakness |
OMIM:601170 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
| Graft Versus Host Disease |
|
Failure to thrive, Inflammatory abnormality of the skin, Dupuytren contracture, Maculopapular exa... |
ORPHA:39812 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Stroke, Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricu... |
OMIM:619402 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Decreased body weight, Flexion contracture, Absent muscle fiber merosin, Ma... |
ORPHA:258 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... |
ORPHA:3287 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... |
ORPHA:263297 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Myopathy, Small for gestational age |
OMIM:307030 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... |
OMIM:500009 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... |
OMIM:605355 |
| Glycogen Storage Disease Ixd |
|
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Pustule, Skin rash, Myositis, Pustular rash, Malar rash, Skeletal muscle atrophy |
OMIM:615934 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... |
OMIM:619574 |
| Familial Tumoral Calcinosis |
|
Calcification of muscles |
ORPHA:53715 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... |
ORPHA:206546 |
| Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:424107 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Sinusitis, Flexion contracture, Skin rash, Myositis, Arthritis, Conjunctivitis... |
OMIM:617591 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Abnormal pericardium morphology, Skin rash, Endocarditis, Myositis, Myocarditis, Arthr... |
ORPHA:183 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture |
OMIM:201470 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... |
OMIM:607155 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
| Antisynthetase Syndrome |
|
Skin rash, Keratoconjunctivitis sicca, Myositis, Myocarditis |
ORPHA:81 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:618234 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... |
ORPHA:98902 |
| Whipple Disease |
|
Cachexia, Myositis, Myocarditis, Arthritis, Uveitis, Infectious encephalitis, Pericarditis |
ORPHA:3452 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Muscular dystrophy, Camptodactyly, Patent ductus arteriosus, Knee flexion contrac... |
OMIM:608799 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... |
ORPHA:352479 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
| Pyomyositis |
|
Weight loss, Myositis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Cardiomyopathy, Myopathy |
OMIM:610717 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Skin rash, Myositis, Arthritis, Malar rash, Pericardial effusion |
ORPHA:93552 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... |
ORPHA:36234 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Failur... |
OMIM:619065 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
| Telangiectasia, Hereditary Benign |
|
Vascular dilatation, Diffuse telangiectasia |
OMIM:187260 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... |
OMIM:614399 |
| Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy |
OMIM:615181 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Cerebral calcification, Vascular dilatation |
OMIM:225755 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Atrial Standstill 2 |
|
Stroke, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Vascular dilatation, A... |
OMIM:615745 |
| Sweet Syndrome |
|
Oligoarthritis, Pustule, Acne inversa, Myositis, Inflammation of the large intestine, Dilated car... |
ORPHA:3243 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Mixed Connective Tissue Disease |
|
Gastritis, Skin rash, Myositis, Myocarditis, Arthritis, Keratoconjunctivitis sicca, Pericarditis |
ORPHA:809 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
| Thymoma |
|
Rheumatoid arthritis, Myositis, Ulcerative colitis, Glomerulonephritis, Weight loss |
ORPHA:99867 |
| Nemaline Myopathy 3 |
|
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, D... |
OMIM:161800 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Obesity, Hy... |
OMIM:615418 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Inflammatory abnormality o... |
ORPHA:37042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Stroke, Atrial arrhy... |
ORPHA:85451 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613327 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Microsporidiosis |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Cachexia, Lymphadeniti... |
ORPHA:2552 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ragged-red muscle fibers, Weight loss, Cachexia |
OMIM:613662 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis |
ORPHA:589 |
| Marinesco-Sjögren Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... |
ORPHA:559 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Skin rash, Peritonitis, Myositis, Erysipelas, Arthritis, Uveitis, Fasciitis, Abnormal m... |
ORPHA:32960 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
| Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, F... |
ORPHA:228119 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:618236 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Distal amyotrophy |
OMIM:232400 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Myopathy |
ORPHA:262 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Spinal muscula... |
ORPHA:1145 |
| Juvenile Dermatomyositis |
|
Skin rash, Myositis, Arthritis, Weight loss, Calcinosis, Pericarditis, Cardiomyopathy |
ORPHA:93672 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Myopathy |
ORPHA:26792 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Stroke, Myofiber disarray, Left bundle branch b... |
OMIM:115197 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexor weakness, Fiber typ... |
OMIM:620011 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... |
ORPHA:370959 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
OMIM:212350 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... |
OMIM:601462 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy |
OMIM:615287 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Facial pa... |
ORPHA:254886 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
| Behçet Disease |
|
Optic neuritis, Pancreatitis, Orchitis, Endocarditis, Myositis, Keratoconjunctivitis sicca, Arthr... |
ORPHA:117 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy, Arrhythmia |
ORPHA:68 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Flexion contracture |
OMIM:608540 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Cerebral calcification, ... |
ORPHA:758 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Skele... |
ORPHA:329336 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Muscular dystrophy |
OMIM:300200 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Small for gestational age, Overgrowth, Ventricular septal defect, Large for gest... |
ORPHA:254534 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pat... |
OMIM:616867 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Renal artery atherosclerosis, Abnormality of the shoulder girdle musculature, Ab... |
ORPHA:565612 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Vascular dilatation |
ORPHA:2924 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Muscular dystrophy, Flexion contracture |
OMIM:615249 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Immunodeficiency 61 |
|
Recurrent sinusitis, Obesity, Recurrent otitis media, Arthritis |
OMIM:300310 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Fo... |
ORPHA:329478 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Cardiomyopathy |
ORPHA:88618 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... |
ORPHA:500 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Mitral regurgit... |
OMIM:300280 |
| Sarcosinemia |
|
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
| Dpm1-Cdg |
|
Failure to thrive, Muscular dystrophy, Knee flexion contracture, Camptodactyly |
ORPHA:79322 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Vascular dilatation |
OMIM:616430 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Myopathy, Nemaline bodies, Cardiomyopathy, Flexion contracture |
OMIM:616549 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Epiphyseal stippling |
OMIM:614859 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... |
OMIM:132900 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index, Macroglossia |
OMIM:614450 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:90307 |
| Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... |
OMIM:181405 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Retinal hemorrhage, Dilatation of the ce... |
OMIM:611773 |
| Vascular Hyalinosis |
|
Cerebral calcification, Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
OMIM:616896 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... |
ORPHA:98909 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Arterial dissection, Abnormal venous morpholo... |
ORPHA:1900 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy |
OMIM:615959 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Calf muscle hy... |
OMIM:253800 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... |
OMIM:261740 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy |
OMIM:618235 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Failure to thrive |
OMIM:614924 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Failure to thrive, Weakness of facial musculature, Increased variability in musc... |
OMIM:619461 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
ORPHA:52430 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... |
ORPHA:352447 |
| Neuraminidase Deficiency |
|
Cherry red spot of the macula, Epiphyseal stippling, Bone-marrow foam cells, Skeletal muscle atro... |
OMIM:256550 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:614462 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... |
OMIM:258450 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Disproportionate tall st... |
ORPHA:3068 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy |
OMIM:615119 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy |
OMIM:604360 |
| Carnitine Deficiency, Systemic Primary |
|
Reduced muscle carnitine level, Cardiomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyop... |
OMIM:212140 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy |
ORPHA:1215 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Muscular dystrophy |
OMIM:616538 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Abnormal carotid artery morphology, Aortic aneurysm, Myocarditis, Myo... |
ORPHA:3342 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Chondrocalcinosis, Arrhythmia... |
ORPHA:732 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Periarticular calcification, Congestive heart failure, Generalized arterial calcification, Myocar... |
OMIM:208000 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Truncal obesity, Recurrent otitis media, Overweight |
OMIM:616222 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Tubulointerstitial nephritis, Increased muscle lipid conten... |
ORPHA:228302 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand, Abnormal h... |
OMIM:175700 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Camptodactyly, Aortic dissection, Vascular dilatation, Varicose veins, Abnormal heart morphology |
OMIM:618343 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Foot dorsiflexor weakness |
OMIM:618124 |
| Walker-Warburg Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atrophy |
ORPHA:899 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Shox-Related Short Stature |
|
Obesity, Skeletal muscle hypertrophy |
ORPHA:314795 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... |
OMIM:609286 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Chilblains, Myositis, Arthritis, Hypertrophic cardiomyopathy, Cardio... |
ORPHA:51 |
| Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality... |
ORPHA:79083 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Tachycardia, ... |
ORPHA:368 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Ventricu... |
OMIM:212138 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Mitral valve prolapse, Muscle fiber splitting, Quadricuspid aortic valve, Proximal amyotrophy |
OMIM:606408 |
| Primary Sjögren Syndrome |
|
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Chronic hepatitis, ... |
ORPHA:289390 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Premature atrial contractions, Stroke, Premature ventricular contra... |
OMIM:601154 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Atopic dermatitis, Chronic otitis media, Camp... |
ORPHA:412035 |
| Primary Lipodystrophy |
|
Angina pectoris, Skeletal muscle hypertrophy, Type IV atherosclerotic lesion, Hypertension, Cardi... |
ORPHA:90970 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Lower limb muscle weakness, Dilatation of the ventricular cavity, Distal lower limb muscle weakne... |
ORPHA:363623 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth, Acne |
ORPHA:759 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, Atherosclerosis, Coronary... |
ORPHA:2348 |
