| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Placental Insufficiency |
|
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... |
ORPHA:439167 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| 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 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... |
ORPHA:263297 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... |
OMIM:618782 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... |
ORPHA:99105 |
| 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 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... |
ORPHA:85451 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... |
OMIM:255160 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dil... |
ORPHA:398124 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... |
OMIM:115195 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... |
ORPHA:45452 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Polyhydramnios, Umbilical ... |
ORPHA:254534 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... |
ORPHA:563 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
| Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... |
ORPHA:98909 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Myopathy, Oligohydramnios, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Elbow flexion contracture, Cardiac conduction abnormalit... |
ORPHA:97244 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta, Severe intrauterine growth retardation, Intrauterine growth retardation |
ORPHA:73272 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
| Scimitar Syndrome |
|
Tricuspid atresia, Double outlet right ventricle, Hypoplasia of the diaphragm, Anomalous pulmonar... |
ORPHA:185 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Single umbilical artery, Left ventricular noncomp... |
OMIM:613426 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
| Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Oligohydramnios, Intrauterine growth retardation |
ORPHA:397590 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Premature birth, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
| Refsum Disease |
|
Heart block, Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly |
ORPHA:773 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... |
OMIM:261740 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... |
OMIM:212138 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Myopathy, Hypertrophic ... |
OMIM:212140 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy |
OMIM:613158 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Hydrops fetalis, Intrauterine growth... |
OMIM:253250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98863 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hepatomegaly, Premature birth, Cardiomegaly |
ORPHA:858 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Left bundle branch block, Sinus bradycardia, Left ventricular outflow tract ... |
ORPHA:439232 |
| Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
| Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Joint contracture of the hand, Short umbilical cord, Hydranencep... |
OMIM:256520 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Skele... |
ORPHA:329336 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Renal tubular epithelial n... |
ORPHA:228308 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... |
ORPHA:254361 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Prenatal maternal abnormality, Arrhythmia, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Restrictive Dermopathy |
|
Multiple joint contractures, Atrial septal defect, Short umbilical cord, Camptodactyly of finger,... |
ORPHA:1662 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Intrauterine growth retardation, Premature birth, Cardiomegaly |
OMIM:618838 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... |
OMIM:235200 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
| Mosaic Trisomy 16 |
|
Abnormal heart morphology, Atrial septal defect, Premature birth, Preeclampsia, Maternal diabetes... |
ORPHA:1708 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... |
ORPHA:500 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect |
OMIM:178650 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Umbili... |
OMIM:239850 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hyp... |
OMIM:201475 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... |
OMIM:619167 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... |
ORPHA:732 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... |
OMIM:234700 |
| Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
| Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Fetal akinesia sequence, Short umbilical cord, Camptodactyly of finger, Small placent... |
OMIM:208150 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... |
ORPHA:363705 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... |
OMIM:616812 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Tachycardia, Arrhythmia, Exercise-induced rhabdomyolysis, Ven... |
ORPHA:26793 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... |
ORPHA:980 |
| Familial Aortic Dissection |
|
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic regurgitation |
ORPHA:229 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Hypertrophic car... |
OMIM:616897 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Right axis devia... |
OMIM:232300 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Oligohydramnios, Intr... |
ORPHA:158687 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Ab... |
OMIM:222470 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Overriding aorta, Intra... |
OMIM:617022 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Premature birth, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... |
ORPHA:308552 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Premature birth, Third degree atrioventricular block, Maternal ter... |
ORPHA:40366 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Fetal distress, Cardiomegaly, Conges... |
OMIM:208000 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture of finger, Flexion contracture, Macroglossia, Wrist flexion ... |
ORPHA:254528 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Caesarian section, Ventricular septal defect, Second degree atrioventric... |
ORPHA:369929 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... |
ORPHA:137675 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Right bundle branch block |
OMIM:616479 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:175 |
| Cantú Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morphology, Hypertrophic cardiom... |
ORPHA:1517 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Decreased muscle mass, Splenomegaly, Arrhythmia, Elevated jugular venous pressure, ... |
ORPHA:465508 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly |
ORPHA:99931 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Primary Hyperoxaluria |
|
Intermittent claudication, Raynaud phenomenon, Heart block, Cardiomyopathy, Arterial occlusion |
ORPHA:416 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Heart ... |
ORPHA:97214 |
| Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Hypert... |
ORPHA:324 |
| Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Arrhyt... |
ORPHA:93672 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, First degree atrioventricular block, Polyhydramnios, Atrial flutter, Atrial fibr... |
OMIM:160900 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Orthostatic hypotension, Distal amyotrophy, Abnormal atrioventricular c... |
OMIM:118301 |
| Marbach-Rustad Progeroid Syndrome |
|
Premature rupture of membranes, Pulmonary insufficiency, Ventricular septal hypertrophy, Right bu... |
OMIM:619322 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Neonatal death, Polyhy... |
OMIM:608013 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:619259 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Pulmonary arterial hy... |
OMIM:614921 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Subchorionic septal cyst, Congenital diaphragmatic hernia, Splenom... |
ORPHA:116 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy |
OMIM:530000 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydrops fetalis, Mitral valve prola... |
OMIM:212093 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Atrial septal defect, Nonimmune hydrops fetalis, Polyhy... |
OMIM:616843 |
| Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia... |
ORPHA:96191 |
| Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Intrauterine growth retardation, Atrial septal defect, Flexion co... |
OMIM:275210 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Oligohydramnios, Intrauterine growth retardation, Cardiomegaly |
ORPHA:255249 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:371428 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Arrhythmia, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy... |
OMIM:608836 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
| Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Type 2 muscle fiber atrophy, Palpitations, Tachycardia, Weakne... |
OMIM:602668 |
| Leigh Syndrome With Cardiomyopathy |
|
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... |
ORPHA:70474 |
| Truncus Arteriosus |
|
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... |
ORPHA:70591 |
| Greenberg Dysplasia |
|
Hepatomegaly, Echogenic fetal bowel, Hepatosplenomegaly, Hydrops fetalis, Nonimmune hydrops fetal... |
OMIM:215140 |
| Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Intrauterine growth retardation, Breech presentation, Splenom... |
OMIM:249000 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Prenatal maternal abnorma... |
ORPHA:91387 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
| Leopard Syndrome 1 |
|
Bundle branch block, Pulmonic stenosis, Spina bifida occulta, Third degree atrioventricular block... |
OMIM:151100 |
| Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy,... |
OMIM:268800 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Camptodactyly, Right bundle branch block, Hypertrophic cardiomyopathy, Cong... |
OMIM:617403 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Diastasis recti, Flexion contracture of thumb, Interphalangeal joint contracture of finger, Atria... |
ORPHA:96334 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Ventricular... |
ORPHA:280365 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Polyhydramnios, Premature birth, Large placenta |
ORPHA:254519 |
| Sickle Cell Anemia |
|
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Melas |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopat... |
ORPHA:550 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Left ventricu... |
ORPHA:365 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Macroglossia, Umbilical hernia, Arthrogryposis multipl... |
OMIM:618143 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Myocarditis, Bundle branch... |
ORPHA:99827 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
| Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Myelopathy, Hear... |
OMIM:252500 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block, Camptodactyly |
OMIM:619576 |
| Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Atrial septal defect, Hepatomegaly, Congenital diaphragmatic hernia, Splenom... |
ORPHA:373 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Flexion contracture, Sple... |
ORPHA:581 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Polyhydramn... |
ORPHA:79330 |
| Nestor-Guillermo Progeria Syndrome |
|
Right atrial enlargement, Flexion contracture, Mitral regurgitation, Right bundle branch block, L... |
OMIM:614008 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Thenar muscle ... |
ORPHA:2463 |
| Ogden Syndrome |
|
Enlarged kidney, Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Ca... |
OMIM:300855 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Facial hypotonia, Cardiomyopathy |
ORPHA:2131 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Placental m... |
OMIM:130650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Tricuspid regurgitation, Pulmonic stenosis, Mitral regurgitation, Ventricul... |
OMIM:617506 |
| Fucosidosis |
|
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly |
OMIM:230000 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ragged-red muscle fibers, Dilated cardiomyopathy, Cardiac conduction abnormality, H... |
ORPHA:255210 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrioventricular block, Arrhythmia, Myocarditis |
ORPHA:93317 |
| Steinert Myotonic Dystrophy |
|
Facial diplegia, Supraventricular tachycardia, Prolonged QRS complex, Weakness of facial musculat... |
ORPHA:273 |
| Bohring-Opitz Syndrome |
|
Facial hypotonia, Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flex... |
ORPHA:97297 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... |
OMIM:245600 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Atrial septal defect, Tricuspid regurgitation, Mitral valve prolapse, Aortic regurgitation, Biven... |
OMIM:617402 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Immunodeficiency 87 And Autoimmunity |
|
Premature rupture of membranes, Atrial septal defect, Hepatomegaly, Atrioventricular canal defect... |
OMIM:619573 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Sarcoidosis |
|
Hepatomegaly, Arrhythmia, Ventricular tachycardia, Portal hypertension, Heart block, Facial palsy... |
ORPHA:797 |
| Pearson Syndrome |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Cardiac conduction abnormality, Cardiomyopathy, Abno... |
ORPHA:699 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Palpitations, Lower limb muscle weakness, Shortened PR interval... |
ORPHA:79102 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Raynaud phenomenon, Hepatosplenomegaly, Arrhinencephaly, Myositis, H... |
ORPHA:51 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Distal lower limb muscle weakness, Myopathy, Congestive heart failure |
ORPHA:14 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Cam... |
OMIM:256040 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Increased nuchal translucency, Hydrops fetalis, Arrhinencephaly, Tetralogy ... |
ORPHA:3472 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Mitral regurgitation, Sudden cardiac death, ... |
ORPHA:391665 |
| Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Atrial septal defect, Hepatomegaly, Splenomegaly, Systolic he... |
OMIM:619991 |
| Generalized Arterial Calcification Of Infancy |
|
Recurrent spontaneous abortion, Weak pulse, Hydrops fetalis, Myocardial calcification, Retinal he... |
ORPHA:51608 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... |
ORPHA:904 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricula... |
ORPHA:353281 |
| Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block, Umbilical hernia |
OMIM:619636 |
| African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Myelopathy, Arrhythmia, Myocarditis, Third degree... |
ORPHA:3385 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricula... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricula... |
ORPHA:353277 |
| Leptospirosis |
|
Hepatomegaly, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Rhabdomyolysis, ... |
ORPHA:509 |
| Hyperoxaluria, Primary, Type I |
|
Intermittent claudication, Arterial occlusion, Atrioventricular block, Raynaud phenomenon |
OMIM:259900 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... |
OMIM:182250 |
| Visceral Steatosis, Congenital |
|
Myocardial steatosis |
OMIM:228100 |
