Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... |
OMIM:115197 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... |
OMIM:611615 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... |
ORPHA:206546 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cataract, Limb ataxia |
OMIM:617133 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... |
ORPHA:90647 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... |
OMIM:611705 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... |
ORPHA:75249 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, Calf muscl... |
OMIM:255160 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... |
ORPHA:63273 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... |
OMIM:609200 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... |
OMIM:619040 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Cardiomyopathy |
OMIM:613752 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
Loeffler Endocarditis |
|
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... |
ORPHA:263297 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Decreased body weight, Short stature, Dilated cardiomyopathy, Recurrent infections, Intrauterine ... |
OMIM:618097 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... |
ORPHA:217607 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... |
OMIM:608099 |
3-Methylglutaconic Aciduria, Type V |
|
Intrauterine growth retardation, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated card... |
OMIM:610198 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... |
OMIM:616201 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestiv... |
OMIM:619048 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy |
OMIM:602541 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... |
OMIM:613255 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy, Spastic ataxia |
OMIM:271320 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy |
OMIM:618815 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Nemaline Myopathy 3 |
|
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, D... |
OMIM:161800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... |
OMIM:616028 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy |
ORPHA:320360 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Distal Nebulin Myopathy |
|
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... |
ORPHA:399103 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Sudden death, Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Congestive ... |
OMIM:192600 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy |
OMIM:615959 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated car... |
OMIM:255310 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Small for gestational age, Tachycardia, Exercise-induced rhab... |
ORPHA:26793 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... |
OMIM:619313 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... |
OMIM:602390 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Growth delay, Congestive heart failure |
OMIM:615440 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dil... |
ORPHA:398124 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
Dysequilibrium Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:1766 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Abdominal pain, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:619324 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... |
ORPHA:70591 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... |
ORPHA:85451 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy, Arrhythmia, Atrial fibrillation, Bradycardia |
OMIM:614302 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated cardiomyopathy, Myo... |
ORPHA:352447 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy |
OMIM:255100 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Pulmonary embolism, Arrhythmia, Cataract, Abnormal heart valve morphology, Hypert... |
ORPHA:1345 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... |
ORPHA:99105 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... |
OMIM:261740 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricular outf... |
OMIM:619402 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... |
OMIM:212138 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... |
ORPHA:732 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Right atrial enlargement, Flexion contracture, Mitral regurgitation, Right bun... |
OMIM:614008 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... |
OMIM:609286 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:2815 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... |
OMIM:300952 |
Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... |
ORPHA:98911 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Dk1-Cdg |
|
Failure to thrive, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated ... |
ORPHA:91131 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... |
OMIM:615745 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:617228 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Attrv30M Amyloidosis |
|
Arrhythmia, Weight loss, Cardiomegaly, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Dilated cardiomyopathy, Cataract, Microphthalmia, Failure to thrive in infancy, Red... |
OMIM:618805 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Maternally-Inherited Diabetes And Deafness |
|
Myalgia, Arrhythmia, Abnormal chorioretinal morphology, Cataract, Hypertension, Hypertrophic card... |
ORPHA:225 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... |
ORPHA:251274 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... |
OMIM:115195 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
OMIM:606703 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... |
OMIM:619167 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Prolonged Q... |
ORPHA:90065 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Sandhoff Disease |
|
Failure to thrive, Recurrent respiratory infections, Congestive heart failure |
ORPHA:796 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy |
OMIM:613158 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy |
OMIM:618120 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:614299 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... |
OMIM:607155 |
Barth Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Exercise intolerance, Recurrent infections in infancy... |
OMIM:302060 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure, Chronic infection |
ORPHA:132 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Neonatal death, Congestive heart failure |
OMIM:301021 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... |
ORPHA:71275 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Diaphragmatic eventration, Dilated cardiomyopathy, Prolonged ... |
ORPHA:66634 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Skeletal muscle hypertrophy, Splenomegaly, ... |
OMIM:613327 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure |
ORPHA:2022 |
Cardiomyopathy, Dilated, 2E |
|
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive, Small for gestational age, Arrhythmia, Rhabdomyolysis, Dilated cardiomyopathy,... |
OMIM:609015 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Failure to thrive, Hepatomegaly, Flexion contracture, Hepatospl... |
ORPHA:367 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Gombo Syndrome |
|
Abnormal heart morphology, Delayed puberty, Microphthalmia |
OMIM:233270 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... |
OMIM:609452 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Atrial fibrillation, Cardiomy... |
OMIM:300842 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Conjunctivitis, Ventricular arrhythmia, Chest pain, Chronic m... |
ORPHA:36913 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Flexion contracture, Facial palsy, Cardiomyopathy, Myopathy |
OMIM:201470 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Failure to thrive, Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive h... |
OMIM:616045 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythro... |
ORPHA:98870 |
Pellagra-Like Syndrome |
|
Ataxia, Cataract |
OMIM:260650 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... |
OMIM:224120 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Reduced muscle carnitine level, Hepatomegaly, Cardiomegaly, Endocardial fibroe... |
OMIM:212140 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Dil... |
ORPHA:99901 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, S... |
OMIM:113900 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... |
ORPHA:254361 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Cardiomyopathy |
OMIM:619651 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Drug-Induced Lupus Erythematosus |
|
Constitutional symptom, Myalgia, Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Per... |
ORPHA:231111 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Microphthalmia, Respiratory infections in early life |
OMIM:248110 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Abdominal pain, Congestive heart failure |
OMIM:616794 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... |
OMIM:615770 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... |
OMIM:613155 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Eczema, Neonatal death, Pulmonary arterial hypertension, Stillbi... |
OMIM:619751 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy |
ORPHA:71212 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Rhabdomyolysis, Ventricular tac... |
OMIM:616878 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Short stature, Astigmatism, Recurrent lower respir... |
OMIM:253250 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cataract |
ORPHA:3233 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, P... |
OMIM:618775 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Cataract 3, Multiple Types |
|
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Flexion contracture, Bradycardia |
OMIM:614498 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Hec Syndrome |
|
Abnormal pupil morphology, Arrhythmia, Endocardial fibroelastosis, Developmental cataract, Cardio... |
ORPHA:2119 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea, Large for gestational age, Microphthalmia, Recurrent respiratory in... |
ORPHA:2432 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... |
OMIM:612954 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Slender build, Flexion contracture, EMG: myopathic abnormalitie... |
ORPHA:171439 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal defect, Ca... |
ORPHA:49827 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... |
ORPHA:401923 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Failure to thrive, Bicuspid aortic valve, Wolff-Parkinson-White syndrome, Atrial septal defect, P... |
OMIM:619343 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
OMIM:145350 |
Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Hepatomegaly, Cardiomyopathy, Myopathy |
OMIM:610717 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Bradycardia, Atrioventricular block, Joint contracture of the 5th finger |
OMIM:614407 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Left bundle branch block, Sinus bradycardia, Left ventricular outflow tract ... |
ORPHA:439232 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Pa... |
OMIM:164310 |
Vici Syndrome |
|
Failure to thrive, Growth delay, Recurrent fungal infections, Ocular albinism, Left ventricular h... |
OMIM:242840 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Obesity, Hypertension, Congestive heart failure |
OMIM:615703 |
Congenital Disorder Of Glycosylation, Type Im |
|