Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Distal, 5 |
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Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Myopathy, Distal, With Rimmed Vacuoles |
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Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Tibial Muscular Dystrophy, Tardive |
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EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Sick Sinus Syndrome 4 |
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Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Tubular Aggregate Myopathy |
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EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Sinoatrial Node Dysfunction And Deafness |
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Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Amyotrophic Lateral Sclerosis 20 |
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Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Incessant Infant Ventricular Tachycardia |
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Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Long Qt Syndrome 2 |
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Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Long Qt Syndrome 10 |
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Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 16 |
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Prolonged QTc interval, Patent ductus arteriosus after birth at term, T-wave alternans, Second de... |
OMIM:618782 |
Brugada Syndrome |
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Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Long Qt Syndrome 9 |
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Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Brugada Syndrome 9 |
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Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Idiopathic Neonatal Atrial Flutter |
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Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Wolff-Parkinson-White Syndrome |
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Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Progressive Familial Heart Block, Type Ib |
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Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Brugada Syndrome 3 |
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J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Sick Sinus Syndrome 1 |
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Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Cardiomyopathy, Dilated, 1Nn |
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Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
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Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Congenital Left Ventricular Aneurysm |
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Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
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Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
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Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Coronary Arterial Fistula |
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Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Cardiogenic Shock |
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Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Tropical Endomyocardial Fibrosis |
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Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |