Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
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Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Muscular Dystrophy, Becker Type |
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Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Ataxia, Deafness, And Cardiomyopathy |
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Cardiomyopathy, Ataxia |
OMIM:208750 |
His Bundle Tachycardia |
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Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Muscular Dystrophy, Cardiac Type |
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Cardiomyopathy, Abnormal EKG, Muscular dystrophy |
OMIM:309930 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
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Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
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Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
Muscular Dystrophy, Progressive Pectorodorsal |
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Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia |
OMIM:310095 |
Cardiomyopathy, Dilated, 1R |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
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Ventricular hypertrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular... |
OMIM:601287 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Cardiomyopathy, Familial Hypertrophic, 3 |
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Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
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Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
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Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy |
OMIM:612998 |
Dpm3-Cdg |
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Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
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Somatic sensory dysfunction, Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakn... |
ORPHA:63273 |
Myopathy, Myofibrillar, 2 |
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Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
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Muscular dystrophy, Gait ataxia |
OMIM:253590 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
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Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... |
OMIM:615352 |
Myopathy, Myofibrillar, 3 |
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Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Left Ventricular Noncompaction 2 |
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Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Hypertrophic, 9 |
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Hypertrophic cardiomyopathy |
OMIM:613765 |
Miyoshi Muscular Dystrophy 3 |
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Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... |
OMIM:613319 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Amyotrophic Lateral Sclerosis 20 |
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Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Myopathy, Myofibrillar, 6 |
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Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Distal sens... |
OMIM:612954 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Cardiomyopathy, D... |
OMIM:610100 |
Myopathy, Distal, 4 |
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Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... |
OMIM:603511 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Miyoshi Muscular Dystrophy 1 |
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Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... |
OMIM:613155 |
Cardiomyopathy, Familial Hypertrophic, 15 |
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Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
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Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
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Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... |
ORPHA:86812 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
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Supraventricular arrhythmia, Impaired vibration sensation in the lower limbs, Optic atrophy, Card... |
ORPHA:320360 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
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Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... |
ORPHA:2926 |
Cardiomyopathy, Dilated, 1M |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
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Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Glycogen Storage Disease 0, Muscle |
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Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
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Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy |
OMIM:613158 |
Cardiomyopathy, Dilated, 2A |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
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Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
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Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:616094 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Muscle Filaminopathy |
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Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
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Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
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T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Myopathy, Distal, 3 |
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Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Distal Nebulin Myopathy |
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Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
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Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
Muscular Dystrophy, Congenital, With Rapid Progression |
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Congenital muscular dystrophy |
OMIM:254100 |
Muscular Dystrophy, Mabry Type |
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Late-onset muscular dystrophy |
OMIM:310000 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
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T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Cardiomyopathy, Familial Restrictive, 1 |
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Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Cardiomyopathy, Familial Hypertrophic, 28 |
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Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
Finnish Upper Limb-Onset Distal Myopathy |
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Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, C... |
ORPHA:399086 |
Ataxia-Oculomotor Apraxia Type 4 |
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Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Telangiectasia, Muscula... |
ORPHA:459033 |
Cardiomyopathy, Dilated, 1W |
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Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
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Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia |
OMIM:616516 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Left Ventricular Noncompaction 10 |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... |
OMIM:602541 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Muscular Dystrophy, Congenital, Lmna-Related |
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Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, A... |
OMIM:613205 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... |
OMIM:158900 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Calf muscle pseudohypertrophy, Scapular winging, Muscular dystrophy, Achilles tendon contracture |
ORPHA:62 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... |
OMIM:613156 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Distal sensory impairment, Cardiomyopathy, Global systolic dysfunction, Limb muscle weakness, Nem... |
OMIM:606842 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... |
OMIM:620236 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Ataxia, Muscular dystrophy |
OMIM:615350 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, ... |
ORPHA:1177 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystroph... |
ORPHA:369840 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... |
OMIM:601419 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia |
OMIM:255100 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy |
OMIM:613869 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... |
OMIM:615351 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Chorea, Ataxia |
OMIM:618683 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hypertension, Myopathy, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... |
OMIM:612937 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Ankle flexion contracture, Optic atrophy, Telangiectasia, Knee flexion contracture, Muscu... |
OMIM:608799 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Sarcosinemia |
|
Ataxia, Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... |
OMIM:607155 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Optic atrophy, Lef... |
OMIM:252011 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Optic atrophy, Cardiomyopathy, Increa... |
ORPHA:401768 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... |
ORPHA:254886 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... |
OMIM:619424 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... |
ORPHA:171433 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia ... |
ORPHA:559 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618236 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Ataxia |
OMIM:620270 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Chorea, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ... |
OMIM:258450 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Optic atrophy, Myopathy... |
ORPHA:1215 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... |
ORPHA:370959 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... |
OMIM:610198 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Facial diplegia... |
ORPHA:521411 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Increased muscle lipid content, Myopathy |
OMIM:610717 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Optic atrophy, Myopathy |
ORPHA:26792 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture, Optic atrophy |
OMIM:618237 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ataxia |
OMIM:615917 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
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 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy |
ORPHA:98896 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... |
ORPHA:258 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, ... |
OMIM:618228 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Hypertension, Ataxia |
ORPHA:3222 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Dpm1-Cdg |
|
Ataxia, Optic atrophy, Knee flexion contracture, Muscular dystrophy, Camptodactyly |
ORPHA:79322 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:613752 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy |
OMIM:232400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Ataxia, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Atrial ... |
OMIM:249270 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ata... |
OMIM:619259 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Chorea, Dilated cardiomyopathy, Choreoathetosis, Facial myokymia, Limb ... |
OMIM:606703 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Impaired propriocep... |
OMIM:229300 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Maternally-Inherited Diabetes And Deafness |
|
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:225 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Joint contracture, Flexion contracture |
OMIM:608540 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:612989 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive heart failure, Cr... |
ORPHA:52430 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98853 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis |
OMIM:607685 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension,... |
ORPHA:1349 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618229 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Optic ... |
OMIM:253800 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrh... |
OMIM:266500 |
Hemochromatosis, Type 2A |
|
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:602390 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Ataxia |
OMIM:619688 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Muscular dystrophy |
ORPHA:88618 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Optic atrophy, Telangiectasia, Paresthesia, Generalized amyotrophy, H... |
ORPHA:79279 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98863 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98855 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Cardiomyopathy, Bradycardia, Arrh... |
OMIM:609286 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... |
OMIM:300280 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis |
OMIM:619433 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Infantile Refsum Disease |
|
Ataxia, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia |
ORPHA:772 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Mcleod Syndrome |
|
Atrial fibrillation, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Im... |
OMIM:300842 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitation, Reduced m... |
OMIM:212140 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Arrhythmia, Hypertrophic cardiomy... |
ORPHA:96 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Athetosis, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618241 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Dysmetria, Cardiomyopathy, Athetosis, Generalized... |
OMIM:617710 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology |
ORPHA:93476 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Muscular dystrophy |
OMIM:615249 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:300438 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... |
OMIM:619051 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Optic atrophy, Mu... |
ORPHA:899 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... |
OMIM:615418 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy |
OMIM:613154 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Familial Isolated Restrictive Cardiomyopathy |
|
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Optic atrophy, Gait ataxia, Cardiomyopathy |
OMIM:620089 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Cardiomyopathy, Optic atrophy, Ataxia |
ORPHA:27 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy, Optic atrophy, Ataxia |
OMIM:617183 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilate... |
OMIM:619167 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Ataxia |
OMIM:500007 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Ataxia |
OMIM:246900 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, ... |
ORPHA:95 |
Hemochromatosis, Type 2B |
|
Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Congestive heart failure, Chorea, Abnormal heart morphology, Hypertrophic cardiomyopathy |
ORPHA:70472 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature |
OMIM:201470 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Cardiomyopathy, Optic atrophy |
ORPHA:79312 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Adrenal Hypoplasia, Congenital |
|
Muscular dystrophy |
OMIM:300200 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy |
ORPHA:3173 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Ataxia |
OMIM:617757 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Ataxia |
OMIM:614879 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Nephronophthisis 16 |
|
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis |
OMIM:615382 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... |
OMIM:212350 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Dysmetria, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Abnormal cardiac ventricular function, Ataxia |
ORPHA:2394 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Kearns-Sayre Syndrome |
|
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Hypertrophic cardiomyopathy, Lower limb amyot... |
ORPHA:496790 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities |
OMIM:620326 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... |
ORPHA:1194 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Portal hypertension, Cardiomyopathy |
OMIM:232500 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Positive Romberg sign, Abnormal autonomic nerv... |
OMIM:105210 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... |
ORPHA:330001 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia |
ORPHA:228305 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving th... |
ORPHA:2671 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Optic atrophy, Optic disc pallor |
OMIM:618437 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Ataxia |
OMIM:619046 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Abnormal ca... |
ORPHA:565612 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ataxia |
OMIM:614299 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Muscular dystrophy |
OMIM:614643 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
American Trypanosomiasis |
|
Aganglionic megacolon, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia |
ORPHA:3386 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:615355 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy |
ORPHA:544469 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Muscular dystrophy, Subvalvular aortic stenosis, Atrial s... |
ORPHA:1052 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... |
ORPHA:746 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Optic atro... |
OMIM:616878 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia |
OMIM:235200 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Refsum Disease |
|
Heart block, Skeletal muscle atrophy, Ataxia, Cardiomyopathy |
ORPHA:773 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Dysmetria, Facial diplegia, Truncal ataxia, Hypertrophic cardiomyo... |
OMIM:619121 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... |
ORPHA:85443 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype... |
OMIM:604377 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Dilated cardiomyopathy... |
OMIM:164310 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Optic atrophy, Ataxia |
OMIM:222300 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lip... |
ORPHA:98907 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita |
ORPHA:79321 |
Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left ventricular eje... |
OMIM:201475 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... |
ORPHA:79083 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy |
OMIM:619386 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea... |
ORPHA:26791 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Ataxia, Congestive heart failure, Aplasia/Hyp... |
ORPHA:354 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flexion contracture, Optic atrophy, Gait ataxia, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619383 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... |
ORPHA:2348 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Muscular dystrophy |
ORPHA:158684 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:369 |
Melas |
|
Wolff-Parkinson-White syndrome, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, R... |
ORPHA:550 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect |
OMIM:616651 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Optic atrophy, Increased intramyocellular lipid droplets, Truncal ataxia, Weakness of fac... |
OMIM:220110 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... |
ORPHA:98908 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy |
ORPHA:324525 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia |
OMIM:606054 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... |
ORPHA:465508 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... |
OMIM:607426 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Ataxia, Skeletal muscle steatosis |
ORPHA:436271 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Glycerol Kinase Deficiency |
|
Myopathy, Muscular dystrophy |
OMIM:307030 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... |
ORPHA:308552 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Dysmetria, Cardiomyopathy, Athetosis, Generalized amyotrophy, Limb hypertonia |
ORPHA:572798 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Congenital contracture, Optic atrophy, Congenital muscular dystrophy, Optic nerve hypoplasia |
OMIM:236670 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Portal hypertension |
OMIM:619902 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Agel Amyloidosis |
|
Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfun... |
ORPHA:85448 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ataxia, Optic atrophy, Cardiomyopathy, Myopathy, Abnormal autonomic ... |
ORPHA:3463 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest |
OMIM:620167 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Vici Syndrome |
|
Cardiomyopathy, Optic atrophy |
ORPHA:1493 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Myopathy |
OMIM:614922 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,... |
ORPHA:251071 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Ataxia, Type 2 muscle fiber predominance, Choreoathetosis, Arrhythmia, H... |
OMIM:615471 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Chorea, Choreoathetosis, Cardiomyopathy... |
ORPHA:2131 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath... |
ORPHA:79086 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Ataxia |
ORPHA:886 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... |
ORPHA:3071 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Ataxia, Optic neuropathy, Hypertrophic cardiomyopathy, Abnormal mitochondria i... |
ORPHA:2609 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Cardiac conduction abnormality, Chorea, Dilated cardiomyopathy, Ragged-red muscle fibers,... |
ORPHA:255210 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy |
OMIM:618839 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension |
ORPHA:292 |
Congenital Generalized Lipodystrophy |
|
Skeletal muscle hypertrophy, Macroglossia, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:528 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Optic atrophy, Abnormal tendon morphol... |
ORPHA:579 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Macroglossia, Cardiomy... |
ORPHA:93473 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Cardiomyopathy |
ORPHA:445038 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... |
OMIM:615895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Muscular dystrophy |
OMIM:615287 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... |
ORPHA:324 |
Von Hippel-Lindau Disease |
|
Papilledema, Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abno... |
ORPHA:892 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy |
ORPHA:848 |
Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... |
OMIM:230500 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Ataxia, Pericardial effusion, Flexion contracture, Dysmetria, Cardiomyopathy |
OMIM:212065 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy |
OMIM:619053 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Congesti... |
ORPHA:506 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Muscular dystrophy |
OMIM:253280 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro... |
OMIM:601992 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy |
ORPHA:157 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:5 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... |
OMIM:616564 |
Hurler Syndrome |
|
Aortic regurgitation, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral regurgitation, En... |
OMIM:607014 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Flexion contracture, Optic atrophy, Macroglossia, Atrial septal defect,... |
OMIM:617303 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... |
ORPHA:280365 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Ataxia |
OMIM:616084 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Macroglossia, Cardiomyopathy |
OMIM:253220 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Aicardi-Goutieres Syndrome 1 |
|
Cardiomyopathy, Vasculitis |
OMIM:225750 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Optic atroph... |
ORPHA:505248 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Decreased nerv... |
ORPHA:580 |
Primary Hyperoxaluria |
|
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... |
ORPHA:416 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy |
OMIM:618835 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Epistaxis |
OMIM:203300 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Ragged-red muscle fibers, C... |
OMIM:252010 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber lysosomes, Car... |
ORPHA:365 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Choreoath... |
ORPHA:17 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Abnormal cardiac septum morphology |
OMIM:217980 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... |
ORPHA:217085 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy |
OMIM:618810 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral regurgitation,... |
OMIM:253200 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Ataxia, Arrhythmia |
OMIM:614052 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... |
ORPHA:217093 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Ataxia |
ORPHA:822 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Dysdiadochokinesis, Truncal ataxia, Hypertrophic cardiomyopathy, Hypomimic face |
ORPHA:309854 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Trichothiodystrophy |
|
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Gait ataxia |
ORPHA:33364 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Cardiomyopathy |
ORPHA:79255 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618329 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, Tet... |
ORPHA:3338 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiom... |
ORPHA:175 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect |
ORPHA:769 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Flexion contracture, Subdural hemorrhage, Retinal hem... |
ORPHA:90324 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormality of the peripheral nervous system, Raynaud phenomenon, Cardiomyop... |
ORPHA:48435 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... |
ORPHA:363958 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... |
OMIM:617403 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:373 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis |
ORPHA:79430 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Optic atrophy, Hypertrophic cardiomyopathy, Optic ... |
ORPHA:1328 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly |
OMIM:130650 |
Pearson Syndrome |
|
Cardiomyopathy, Ataxia, Cardiac conduction abnormality, Abnormal heart morphology |
ORPHA:699 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Ataxia |
OMIM:124000 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
Aicardi-Goutieres Syndrome 7 |
|
Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyo... |
OMIM:615846 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Ataxia, Aortic valve atresia, Dysmetria, Hypertension, Mit... |
OMIM:220111 |
Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... |
OMIM:218040 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cardiomyopathy, Generalized muscular appearance from birth |
OMIM:608594 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... |
ORPHA:363700 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Ventricular septal hyper... |
OMIM:269700 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Camptodactyly of finger, ... |
OMIM:607872 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis recti, Ma... |
OMIM:312870 |
Zimmermann-Laband Syndrome 1 |
|
Cardiomyopathy |
OMIM:135500 |
Tyrosinemia, Type I |
|
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage |
OMIM:276700 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:480880 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... |
OMIM:216340 |