Myopathy, Myofibrillar, 3 |
|
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Cardio... |
OMIM:609200 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Myopathy, Myofibrillar, 1 |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... |
OMIM:601419 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... |
OMIM:158810 |
Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... |
OMIM:605820 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Generalized muscle weakness, Increased variability in muscle fiber diameter, B... |
OMIM:620265 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal muscle weakness, Proximal amyotrophy, Brad... |
OMIM:614302 |
Congenital Myopathy 5 With Cardiomyopathy |
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Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Proximal muscle weakness, Gowers sign, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dys... |
OMIM:612937 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... |
OMIM:614321 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... |
OMIM:500002 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... |
OMIM:609524 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Zebra Body Myopathy |
|
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... |
ORPHA:97240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f... |
ORPHA:598 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Poor head control, Cardiac conduction abnormality, Gowe... |
ORPHA:97244 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Suprave... |
OMIM:255100 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Bethlem Myopathy 2 |
|
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... |
OMIM:616471 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Proximal muscle weakness |
OMIM:606768 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
Acetyl-Coa Carboxylase Deficiency |
|
Growth delay, Myopathy |
OMIM:613933 |
Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne... |
OMIM:610687 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... |
OMIM:300696 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyop... |
OMIM:300580 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abn... |
ORPHA:399081 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,... |
OMIM:300695 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa... |
ORPHA:59135 |
Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, F... |
ORPHA:171442 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... |
OMIM:603034 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... |
OMIM:619042 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy, Muscle weakness |
OMIM:616314 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... |
OMIM:310300 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Muscle weakness |
OMIM:545000 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... |
OMIM:255160 |
Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Cardiomyopa... |
OMIM:610717 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... |
ORPHA:270 |
Muscle Filaminopathy |
|
Scapular winging, Neck flexor weakness, Left ventricular diastolic dysfunction, Fatty replacement... |
ORPHA:171445 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... |
ORPHA:86812 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... |
OMIM:167320 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
OMIM:611307 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne... |
ORPHA:353327 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... |
OMIM:616924 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... |
OMIM:605355 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Myofibrillar myopathy, Proximal muscle we... |
OMIM:612954 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... |
OMIM:615348 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Neck flexor we... |
ORPHA:263297 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... |
OMIM:605809 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Poor head control, Congestive heart failure, Flexion contracture, Axial ... |
ORPHA:157973 |
Central Core Disease |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... |
ORPHA:597 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Cardiomegaly, Proximal muscl... |
OMIM:618654 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... |
ORPHA:171439 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ophthalmoplegia, Ragged-red muscle fibe... |
OMIM:540000 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Poor head control, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Short stature |
ORPHA:366 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... |
OMIM:310440 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Myopathy, Distal, 3 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... |
OMIM:610099 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... |
OMIM:609286 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ... |
OMIM:616276 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Proportionate short stature |
ORPHA:50817 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... |
OMIM:253601 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... |
OMIM:618823 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu... |
OMIM:615156 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:620249 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Increased QRS voltage, Atr... |
OMIM:300257 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Intrauterine growth retardation, Nemaline bodies, Myopathy |
OMIM:618246 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... |
OMIM:161800 |
Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:602771 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... |
OMIM:616816 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Multiple joint contractures, Limb-girdle muscle weakness, G... |
ORPHA:352470 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Neonatal death, Intrauterine growth retardation, Hypertrophic card... |
OMIM:618237 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Growth delay, EMG: myopathic abnormalitie... |
ORPHA:57 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Gowers sign, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomy... |
OMIM:602541 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... |
ORPHA:254875 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Short stature, Cardiomyopathy, Distal amyotrophy, Myopathy, Muscle weakness |
OMIM:232400 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, In... |
ORPHA:119 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia, Musc... |
OMIM:300376 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Poor head control, Arterial rupture, Myopathy, Muscle weakness |
ORPHA:300179 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... |
ORPHA:2596 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... |
ORPHA:353 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Proximal muscle weakness |
OMIM:551500 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Short stature, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness |
ORPHA:2349 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Congenital Myopathy 16 |
|
Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu... |
OMIM:618524 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Bulbar palsy, Multiple joint contractures, Poor head control, Distal mus... |
ORPHA:70 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:255200 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Int... |
OMIM:619048 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... |
OMIM:115197 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Generalized muscle weakness, Growth delay, Myopathy, Pulmon... |
OMIM:212350 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Growth delay, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... |
ORPHA:98913 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... |
ORPHA:329478 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal muscle w... |
ORPHA:254886 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness |
OMIM:615511 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Poor head control, A... |
ORPHA:3208 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in... |
OMIM:614654 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Short stature |
ORPHA:408 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Short stature, Failure to thrive in infancy, Incr... |
OMIM:619065 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... |
OMIM:619790 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myopathy |
OMIM:613345 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Respiratory insufficiency due... |
OMIM:301830 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Hypertension, Myopathy, Muscular dystrophy, Lo... |
OMIM:615980 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion... |
OMIM:608840 |
Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... |
ORPHA:75840 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Myopathy, Intrauterine growth retardation |
ORPHA:26792 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Ragged-re... |
ORPHA:352447 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness |
OMIM:170400 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
OMIM:618234 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ... |
ORPHA:99939 |
Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... |
ORPHA:171436 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Proximal muscle weakness, Congestive heart failure, Cardiomyopathy, Mitral regurgit... |
OMIM:212140 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Poor head control, Limb joint contracture, Bradycardia |
OMIM:619814 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Aminoacylase 1 Deficiency |
|
Bradycardia, Muscle weakness |
OMIM:609924 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy, Delayed puberty |
ORPHA:2598 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle weakness, Achilles tend... |
OMIM:606612 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Palp... |
OMIM:255125 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
Hypophosphatasia, Childhood |
|
Myopathy, Short stature |
OMIM:241510 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Cardiomegaly, Proximal muscle weakness, Fatigable weakness, Myopathy, Di... |
ORPHA:42 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals... |
ORPHA:98915 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... |
OMIM:226670 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor head control, Sick sinus syndrome, Bradycardia, Prolonged PR inte... |
ORPHA:542306 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies |
OMIM:616549 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... |
ORPHA:178148 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Progressive m... |
OMIM:248800 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy, Short stature, Muscle weakness |
ORPHA:166002 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Proximal mu... |
OMIM:619542 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Neutral Lipid Storage Myopathy |
|
Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske... |
ORPHA:98908 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Poor head control, Growth delay, Bradycardia, Pulmonary arterial hyperte... |
OMIM:619272 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Bradycardia, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:614702 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia, Muscle weakness |
ORPHA:228305 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy,... |
ORPHA:369840 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Short stature, Proximal muscle weakness, Fatty replacement of skeletal mu... |
ORPHA:52430 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... |
OMIM:615418 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Ophthalmoparesis, Skeleta... |
ORPHA:682 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia |
ORPHA:1215 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Muscle weakness |
OMIM:300653 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia, Short stature |
ORPHA:2238 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Diaph... |
OMIM:620326 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... |
OMIM:254090 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Progressive external ophthalmoplegia, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Lef... |
OMIM:617713 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Ge... |
ORPHA:99901 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Sudden cardiac de... |
OMIM:610198 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia |
ORPHA:95717 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o... |
OMIM:616239 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Progressive proximal muscle weakness, Limb-girdle muscula... |
ORPHA:369847 |
Axial Osteomalacia |
|
Myopathy, Proximal muscle weakness |
OMIM:109130 |
Mcleod Syndrome |
|
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Muscle wea... |
OMIM:300842 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Spinocerebellar Ataxia With Epilepsy |
|
Myopathy, Ophthalmoparesis |
ORPHA:254881 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Myopathy, Muscular dystrophy, Muscle flaccidity, A... |
ORPHA:559 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Poor head control, Congenital foot contractures, Bradycardia, Intrauterine growth retardation, Mu... |
ORPHA:565624 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Generalized muscle weakness, My... |
OMIM:609015 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Progressive distal muscle weakness, Congestive heart failure, Rhabdomyol... |
ORPHA:746 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia, Limb hypertonia |
OMIM:614498 |
Immunodeficiency 9 |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Gowers sign, Proximal muscle weakness |
OMIM:612782 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype... |
OMIM:604377 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Ophthalmoplegia, EMG: myopathic abnormalities, Short stature, Muscle weakness |
ORPHA:457365 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, External ophthalmoplegia, Myopathy |
ORPHA:1876 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Distal muscle weakness, Proxim... |
OMIM:164310 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... |
ORPHA:169189 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Scleromyxedema |
|
Distal muscle weakness, Transient ischemic attack, Hypoperistalsis, Raynaud phenomenon, Proximal ... |
ORPHA:167635 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Short stature, Myopathy |
ORPHA:85329 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Muscle weakness |
ORPHA:713 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalm... |
ORPHA:254892 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Muscle weakness |
OMIM:275630 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ... |
ORPHA:100093 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F... |
ORPHA:367 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Progressiv... |
ORPHA:368 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations, Muscle weakness |
OMIM:188580 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... |
ORPHA:79083 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Growth delay, Increased variability in muscle fiber diameter, Flexion contracture, Failure to thr... |
OMIM:619026 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Wea... |
OMIM:254940 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... |
ORPHA:2348 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Short stature, Progressive proximal muscle weakness, Cardiomyopathy, Myopathy, Shoulder girdle mu... |
ORPHA:98907 |
Cystinosis |
|
Short stature, Portal hypertension, Myopathy, Delayed puberty, Muscle weakness |
ORPHA:213 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
External ophthalmoplegia, Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial muscu... |
OMIM:201470 |
Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia |
ORPHA:226313 |
Myotonic Dystrophy 2 |
|
Tachycardia, Neck flexor weakness, Proximal muscle weakness, Premature ventricular contraction, R... |
OMIM:602668 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... |
ORPHA:565612 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu... |
OMIM:112250 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia |
ORPHA:95716 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Growth delay, Hy... |
OMIM:614653 |
Stormorken Syndrome |
|
Short stature, Epistaxis, Subarachnoid hemorrhage, Proximal muscle weakness, Myopathy |
OMIM:185070 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Myopathy |
ORPHA:363400 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Adrenomyodystrophy |
|
Myopathy, Short stature |
ORPHA:977 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... |
OMIM:616866 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Progressive external ophthalmoplegia |
OMIM:613077 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Neonatal death, Cardiomyopathy, Stillbirth, Myopathy |
OMIM:614922 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ophthalmoplegia, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Short stature, Proximal muscle wea... |
OMIM:619743 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
Glycogen Storage Disease Xii |
|
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... |
OMIM:611881 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... |
ORPHA:1358 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... |
OMIM:157640 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Congenital Myasthenic Syndrome |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:98914 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... |
ORPHA:449285 |
Melas |
|
Wolff-Parkinson-White syndrome, Progressive external ophthalmoplegia, Short stature, Cardiac cond... |
ORPHA:550 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:616503 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia, Muscle weakness |
ORPHA:157 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diame... |
ORPHA:502423 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Congestive heart failu... |
OMIM:615512 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... |
ORPHA:280365 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... |
ORPHA:1329 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Short stature |
OMIM:618822 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension, Abnormal heart morphology |
ORPHA:391673 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Intrauterine growth retardation, ... |
OMIM:618397 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles, Lower ... |
ORPHA:365 |
Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
Chylomicron Retention Disease |
|
Growth delay, Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
Bohring-Opitz Syndrome |
|
Short stature, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co... |
ORPHA:97297 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Bradycardia |
OMIM:608800 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities |
ORPHA:684 |
D-Glyceric Aciduria |
|
Growth delay, Bradycardia |
OMIM:220120 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Distal muscle we... |
ORPHA:506 |
Sanjad-Sakati Syndrome |
|
Postnatal growth retardation, Myopathy, Short stature, Severe intrauterine growth retardation |
ORPHA:2323 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... |
ORPHA:94093 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Angina pectoris, Short stature, Telangie... |
ORPHA:109 |
Optic Atrophy 11 |
|
Facial diplegia, Short stature, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
Xp21 Deletion Syndrome |
|
Growth delay, Myopathy, Decreased muscle mass, Calf muscle hypertrophy |
ORPHA:261476 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Muscle weakness |
ORPHA:319213 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Poor head control, Tricuspid regurgitation, Myopathy, Mitral regurgitati... |
OMIM:614557 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Abnormal heart valve morphology, Abnormal heart morphology, Myopathy, Arth... |
ORPHA:2953 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Short stature, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilate... |
OMIM:614921 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:90289 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath... |
ORPHA:79086 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
Pseudoachondroplasia |
|
Skeletal myopathy, Disproportionate short-limb short stature |
ORPHA:750 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia |
ORPHA:90673 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Growth delay, Macroglossia, Bradycardia |
ORPHA:90674 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... |
ORPHA:168572 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Congestive heart failure, Generalized muscle weakness, Elbow flexion contr... |
ORPHA:1900 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ophthalmoplegia, Cardiomyopathy, Myopathy, Delayed puberty |
ORPHA:3463 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia, Muscle weakness |
ORPHA:91355 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Idiopathic Camptocormia |
|
Myositis, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Abnormal ... |
ORPHA:1320 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG:... |
OMIM:618733 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Atrioventricular canal defect, Short stature |
ORPHA:2549 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short stature, Elbow flexion contracture, Knee flexion contracture, Intrauterine... |
ORPHA:371364 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Short stature, Bicuspid aortic valve, Cerebral hemorrhage, Dextrocardia,... |
ORPHA:536545 |
Vici Syndrome |
|
Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M... |
OMIM:242840 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Short stature, Shoulder flexion contracture, Skeletal m... |
ORPHA:800 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Gastrointestinal hemorrhage, Hypertension, Myopathy, Congestive heart failure |
ORPHA:85450 |
Myopathy, Mitochondrial, And Ataxia |
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Growth delay, Increased variability in muscle fiber diameter, Distal amyotrophy, Short stature |
OMIM:617675 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Cor triatriatum, Secundum atrial septal defect, Growth delay, Myopathy, Mitral regurgitation, Pul... |
OMIM:612541 |
Abetalipoproteinemia |
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Cardiomegaly, Congestive heart failure, Ophthalmoplegia, Myopathy, Distal lower limb muscle weakness |
ORPHA:14 |
Hereditary Xanthinuria |
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Myopathy |
ORPHA:3467 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Growth delay, Macroglossia, Bradycardia |
OMIM:218700 |
Dermatomyositis |
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Pericarditis, Telangiectasia of the skin, Myocardial infarction, Proximal muscle weakness, Myocar... |
ORPHA:221 |
Myasthenic Syndrome, Congenital, 19 |
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Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Growth delay, Macroglossia, Pituitary dwarfism, Bradycardia |
ORPHA:226307 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Skeletal muscle atrophy, Patent ductus arteriosus, Ragged-red muscle fibers, Flexion contracture,... |
ORPHA:17 |
Severe Congenital Nemaline Myopathy |
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Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
Stromme Syndrome |
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Myopathy, Stillbirth |
OMIM:243605 |
Lethal Congenital Contracture Syndrome 10 |
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Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Intrauterine growth re... |
OMIM:617022 |
Congenital Myopathy 17 |
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Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
Glycerol Kinase Deficiency |
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Growth delay, Myopathy, Short stature, Muscular dystrophy |
OMIM:307030 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia |
ORPHA:480864 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia |
OMIM:614437 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Marburg Hemorrhagic Fever |
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Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
3-Methylglutaconic Aciduria, Type Viii |
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Growth delay, Bradycardia, Neonatal death |
OMIM:617248 |
Microform Holoprosencephaly |
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Intrauterine growth retardation, EMG: myopathic abnormalities, Tetralogy of Fallot, Short stature |
ORPHA:280200 |
Alpha-Mannosidosis, Infantile Form |
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Aortic regurgitation, Facial hypotonia, Macroglossia, Mitral regurgitation, Myopathy |
ORPHA:309282 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Growth delay, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Multiple Endocrine Neoplasia, Type Iib |
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Myopathy |
OMIM:162300 |
Yellow Fever |
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Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Williams Syndrome |
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Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... |
ORPHA:904 |
1P36 Deletion Syndrome |
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Short stature, Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, ... |
ORPHA:1606 |
Choreoacanthocytosis |
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Distal muscle weakness, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Distal amyotro... |
ORPHA:2388 |
Caribbean Parkinsonism |
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EMG: myopathic abnormalities, Orthostatic hypotension |
ORPHA:97355 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Short stature, Growth delay, Myopathy, Delayed puberty |
OMIM:219800 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Flexion contracture, Short stature, Myopathy |
ORPHA:3042 |
Cardiac-Urogenital Syndrome |
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Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia |
OMIM:619482 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Myopathy, Decreased muscle mass |
OMIM:234200 |
Congenital Total Pulmonary Venous Return Anomaly |
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Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... |
ORPHA:99125 |
Proteus Syndrome |
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Myofibrillar myopathy, Decreased muscle mass, Sudden cardiac death, Pulmonary embolism |
ORPHA:744 |