Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611407 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613122 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
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, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... |
OMIM:611615 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Cardiomyopathy |
OMIM:613752 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... |
OMIM:619903 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... |
OMIM:613690 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy |
OMIM:212130 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Decreased body weight, Dilated cardiomyopathy |
OMIM:618097 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
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 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... |
OMIM:608099 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... |
OMIM:616827 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... |
OMIM:609200 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement |
OMIM:611556 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... |
OMIM:619402 |
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 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... |
ORPHA:263494 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... |
OMIM:611705 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... |
OMIM:300580 |
Cardiomyopathy, Dilated, 2E |
|
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... |
OMIM:255160 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy |
OMIM:609500 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy |
OMIM:602541 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... |
OMIM:602390 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy |
OMIM:615959 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Attrv30M Amyloidosis |
|
Arrhythmia, Weight loss, Cardiomegaly, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Nemaline Myopathy 3 |
|
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Dilated cardiomy... |
OMIM:161800 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy |
ORPHA:320360 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Dilated cardiomyopathy, Noncompaction cardiomyopathy, Prolonged QT interval... |
OMIM:610198 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:614299 |
Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... |
ORPHA:98911 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Reduced systolic function |
OMIM:618805 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... |
OMIM:300952 |
Dk1-Cdg |
|
Failure to thrive, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated ... |
ORPHA:91131 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Loeffler Endocarditis |
|
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy |
OMIM:615084 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
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 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... |
OMIM:619167 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture |
OMIM:609308 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy |
OMIM:255100 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated cardiomyopathy, Limb j... |
OMIM:255310 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
OMIM:606703 |
Hemochromatosis Type 2 |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... |
ORPHA:217607 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Cardiomyopathy |
OMIM:619651 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated cardiomyopathy, Gen... |
ORPHA:352447 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
Polymyositis |
|
Abnormal mitral valve morphology, Hepatomegaly, Arrhythmia, Vasculitis, Myocardial infarction, Ab... |
ORPHA:732 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... |
ORPHA:263297 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy |
OMIM:615119 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
Myopathy, Myofibrillar, 4 |
|
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... |
OMIM:609452 |
Megabladder, Congenital |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... |
OMIM:618719 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... |
OMIM:607155 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy |
OMIM:610100 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Dilated cardiomyopathy, Portal hypertension,... |
ORPHA:367 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
OMIM:145350 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Failure to thrive, Hypertrophic cardiomyopathy |
OMIM:614096 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy |
OMIM:618120 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... |
OMIM:115195 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Tachycardia, Syncope |
OMIM:615821 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dil... |
ORPHA:398124 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... |
ORPHA:401923 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:231530 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrop... |
ORPHA:99901 |
Barth Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic ... |
OMIM:302060 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... |
OMIM:619433 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Abnormal left ventricle morphology |
OMIM:300845 |
Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... |
OMIM:613155 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiom... |
OMIM:212140 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Atrial septal defect, Small for gestational age, Tachycardia, Arrhythmia, Ventricul... |
ORPHA:26793 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure |
OMIM:208000 |
Propionic Acidemia |
|
Hepatomegaly, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:611126 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Abnormal heart valve morphology, Hypertrophic... |
OMIM:230500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... |
ORPHA:422 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:616730 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive, Small for gestational age, Arrhythmia, Dilated cardiomyopathy, Congestive hear... |
OMIM:609015 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy |
OMIM:300842 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy |
OMIM:615352 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... |
OMIM:600996 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Failure to thrive, Atrial septal defect, P... |
OMIM:619343 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... |
OMIM:261740 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Pulmonary arterial hy... |
OMIM:614921 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... |
OMIM:615745 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Cardiomyopathy, Congestive heart failure, Splenomegaly |
OMIM:613313 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... |
ORPHA:99105 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Pr... |
ORPHA:71212 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:93476 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:618348 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... |
OMIM:235200 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aorti... |
ORPHA:2326 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... |
ORPHA:75249 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, Hypertrophic c... |
OMIM:615382 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... |
OMIM:115250 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hematochezia, Dilated cardiomyopathy, Cardiomyopat... |
OMIM:615895 |
Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... |
OMIM:234700 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, ... |
OMIM:615415 |
Leigh Syndrome With Cardiomyopathy |
|
Failure to thrive, Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac condu... |
ORPHA:70474 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... |
OMIM:618652 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... |
ORPHA:324410 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Mitral regurgitation, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy |
ORPHA:70595 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure |
OMIM:253250 |
Vici Syndrome |
|
Failure to thrive, Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Congesti... |
OMIM:242840 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hyp... |
ORPHA:308552 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Weakness of facial musculature, Mitral regurgitation, Increased variabilit... |
OMIM:607459 |
Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
OMIM:164310 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:256550 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Diaphragmatic eventration, Dilated cardiomyopathy, Prolonged ... |
ORPHA:66634 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, C... |
ORPHA:99931 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Tachycardia |
OMIM:618321 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Left ventricular hypertrophy, Palpitations, Quadriceps muscle weakness, Arrhythm... |
ORPHA:254892 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Patent foramen ovale, Concentric hypertrophic cardiomyopathy |
OMIM:610505 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Arrhythmia, Enlarged kidney, Dilated cardiomyopathy, Antenatal intracerebral hemorr... |
OMIM:608836 |
Alstrom Syndrome |
|
Hepatomegaly, Truncal obesity, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
OMIM:203800 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Calf muscle hy... |
OMIM:253800 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Weight loss, Hypertension, Pericarditis, Cardiomyopathy |
ORPHA:767 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
Hec Syndrome |
|
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Small for gestational age |
OMIM:613320 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Mitral regurgitation, Dilated cardiomyopathy |
ORPHA:261250 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Hypotension, Dilated cardiomyopathy, Weight loss, Cardiac arrest, Prolonged prothro... |
ORPHA:20 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Elevated jugular venous pressure, Portal hypertension, We... |
ORPHA:465508 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Arrhythmia, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Dilated cardiomyopathy |
OMIM:613989 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Dilated cardi... |
ORPHA:231226 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... |
ORPHA:3342 |
Melas |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopat... |
ORPHA:550 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Large for gestational age, Peric... |
OMIM:239850 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arrhythmia,... |
ORPHA:231214 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Sudden cardiac death, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mit... |
ORPHA:363705 |
Congenitally Corrected Transposition Of The Great Arteries |
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Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
Familial Aortic Dissection |
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Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly |
ORPHA:229 |
Infantile Liver Failure Syndrome 2 |
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Prolonged prothrombin time, Cardiomyopathy |
OMIM:616483 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hepatomegaly, Premature ventricular contraction, Hypotension, Ventricular tachycardia, Ventricula... |
OMIM:212138 |
American Trypanosomiasis |
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Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Achalasia, Cardiomyopathy, Congestive heart ... |
ORPHA:3386 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Small for gestational age |
OMIM:616897 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Dilated cardiomyopathy, Truncal obesity |
OMIM:616541 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Failure to thrive, Hepatomegaly, Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertro... |
ORPHA:255210 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive heart failure |
ORPHA:73224 |
Gaucher Disease, Type Iiic |
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Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Pseudo-Torch Syndrome 3 |
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Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:619259 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Cardiomegaly |
ORPHA:3137 |
Lethal Acantholytic Erosive Disorder |
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Impaired myocardial contractility, Cardiomyopathy, Cardiomegaly, Hypovolemic shock |
ORPHA:158687 |
Atrial Septal Defect, Coronary Sinus Type |
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Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
Idiopathic Hypereosinophilic Syndrome |
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Supraventricular arrhythmia, Failure to thrive, Vasculitis in the skin, Splenomegaly, Raynaud phe... |
ORPHA:3260 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Decreased body weight, Dilated cardiomyopathy, Failure to thrive |
ORPHA:89842 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... |
ORPHA:137675 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Splenomegaly, Raynaud phenomenon, Hepatosplenomegaly, Vasculitis, Dilated cardiomyo... |
OMIM:615688 |
Sweet Syndrome |
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Dilated cardiomyopathy, Small vessel vasculitis |
ORPHA:3243 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Failure to thrive, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, Pulmonary art... |
ORPHA:79282 |
Absence Of The Pulmonary Artery |
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Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... |
ORPHA:980 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly |
OMIM:618838 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Neonatal death, Cardiomyopathy |
OMIM:618839 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Reduced left ventricular ejection fraction, Abnormal EKG, Right bu... |
ORPHA:268 |
Immunodeficiency 87 And Autoimmunity |
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Atrial septal defect, Hepatomegaly, Atrioventricular canal defect, Small for gestational age, Thi... |
OMIM:619573 |
Triglyceride Deposit Cardiomyovasculopathy |
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Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... |
ORPHA:565612 |
Fucosidosis |
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Failure to thrive, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid valve prolapse, Abnormal cardiac septum morphology, Failure to thrive, Tricuspid regurg... |
ORPHA:2556 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... |
OMIM:232300 |
Primary Lipodystrophy |
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Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Cardiomyopathy, Myopathy, Congestive ... |
ORPHA:90970 |
Sickle Cell Anemia |
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Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Cantú Syndrome |
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Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Gaucher Disease, Perinatal Lethal |
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Decreased body weight, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Cardiomegaly |
OMIM:608013 |
Steinert Myotonic Dystrophy |
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Facial diplegia, Supraventricular tachycardia, Prolonged QRS complex, Weakness of facial musculat... |
ORPHA:273 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Sandhoff Disease |
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Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Mucosal telangiectasiae, Eunuchoid habitus, Cardiomegaly |
ORPHA:2463 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hyp... |
ORPHA:365 |
Congenital Tracheomalacia |
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Failure to thrive, Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septa... |
ORPHA:95430 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... |
OMIM:602782 |
Truncus Arteriosus |
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Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
1P36 Deletion Syndrome |
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Abnormal cardiac septum morphology, Failure to thrive, Tetralogy of Fallot, Dilated cardiomyopath... |
ORPHA:1606 |
Craniofaciofrontodigital Syndrome |
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Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Mucolipidosis Ii Alpha/Beta |
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Failure to thrive, Hepatomegaly, Splenomegaly, Mitral regurgitation, Enlarged kidney, Heart murmu... |
OMIM:252500 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly |
ORPHA:255249 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Failure to thrive, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Bicuspid aortic valve, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Nonc... |
OMIM:607872 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Slender build, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventric... |
OMIM:300967 |
Mogs-Cdg |
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Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Abetalipoproteinemia |
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Failure to thrive, Hepatomegaly, Prolonged prothrombin time, Cardiomegaly, Congestive heart failure |
ORPHA:14 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
Johanson-Blizzard Syndrome |
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Failure to thrive, Atrial septal defect, Small for gestational age, Ventricular septal defect, Si... |
OMIM:243800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Splenomegaly, Abnormal ao... |
ORPHA:581 |
Choreoacanthocytosis |
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Weight loss, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly |
ORPHA:2388 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Severe failure to thrive, Cardiomegaly, Bradycardia |
ORPHA:97297 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Dilated cardiomyopathy |
ORPHA:79408 |
Ogden Syndrome |
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Torsade de pointes, Bicuspid aortic valve, Premature atrial contractions, Secundum atrial septal ... |
OMIM:300855 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Raynaud phenomenon |
ORPHA:51 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Abnormal left ventricular function, Mitral regurgitation, Sudden cardiac death, ... |
ORPHA:391665 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Yunis-Varon Syndrome |
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Atrial septal defect, Severe failure to thrive, Tetralogy of Fallot, Renovascular hypertension, V... |
ORPHA:3472 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Failure to thrive, Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomegaly, Congestive heart failure |
OMIM:256040 |
Singleton-Merten Syndrome 1 |
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Aortic valve calcification, Decreased body weight, Aortic valve stenosis, Mitral valve calcificat... |
OMIM:182250 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Large for gestational age, Visceromegaly, Obesity, H... |
ORPHA:116 |
Liver Disease, Severe Congenital |
|
Failure to thrive, Abnormal left ventricular function, Hepatomegaly, Atrial septal defect, Spleno... |
OMIM:619991 |
Williams Syndrome |
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Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... |
ORPHA:904 |
Generalized Arterial Calcification Of Infancy |
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Weak pulse, Myocardial calcification, Retinal hemorrhage, Failure to thrive in infancy, Left vent... |
ORPHA:51608 |
Visceral Steatosis, Congenital |
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Myocardial steatosis, Neonatal death |
OMIM:228100 |
Alström Syndrome |
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Myocardial fibrosis, Hepatomegaly, Splenomegaly, Abnormal coronary artery physiology, Hepatosplen... |
ORPHA:64 |