Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... |
OMIM:115197 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... |
ORPHA:422 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... |
OMIM:310300 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlar... |
ORPHA:75249 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... |
ORPHA:57777 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... |
ORPHA:60041 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial palsy, Cardiogenic... |
OMIM:619424 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... |
OMIM:613834 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... |
ORPHA:1177 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology |
ORPHA:1208 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Death in infancy, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase conc... |
OMIM:615395 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... |
ORPHA:63273 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block |
ORPHA:480 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy |
OMIM:609016 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Heart block, Splenomegaly, Di... |
ORPHA:398124 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly... |
OMIM:212138 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... |
ORPHA:555877 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... |
ORPHA:185 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Myopathy |
ORPHA:91130 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... |
ORPHA:2847 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... |
OMIM:619825 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Ventricular sept... |
ORPHA:26793 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Death in childhood |
OMIM:619651 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:98853 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... |
OMIM:614008 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary ven... |
ORPHA:1120 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy |
OMIM:310095 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Camptodactyly |
OMIM:618453 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... |
OMIM:232300 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... |
OMIM:616866 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Cardiomyopathy, Dilated, 2C |
|
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... |
OMIM:618189 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Co... |
ORPHA:3426 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... |
ORPHA:308552 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, ... |
OMIM:601186 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... |
OMIM:617021 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... |
ORPHA:363444 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... |
ORPHA:615 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Muscular ventricular septal defect, Dilated... |
ORPHA:66634 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower respiratory tract infection... |
OMIM:620233 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... |
OMIM:614876 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Death in infancy |
OMIM:616647 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do... |
ORPHA:3304 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Facial hypotonia, First degree atrioventricular block, Patent ductus arterio... |
ORPHA:589821 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... |
OMIM:619167 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... |
ORPHA:1666 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:615440 |
3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Subvalvular aortic stenosis |
OMIM:250951 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Splenomegaly, Congestive heart failure, Chyloper... |
ORPHA:2414 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defec... |
OMIM:608104 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... |
OMIM:615668 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Hsd10 Disease, Neonatal Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy |
ORPHA:391457 |
Dystonia 23 |
|
Arrhythmia, Torticollis |
OMIM:614860 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... |
OMIM:193400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale |
OMIM:615539 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy |
OMIM:607685 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Myopathy, Cardiomyop... |
OMIM:610717 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d... |
ORPHA:229 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:617184 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly |
OMIM:618804 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Death in infancy, Elevated circulating aspartate aminotran... |
OMIM:608779 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneu... |
OMIM:620070 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal lower limb muscl... |
OMIM:619903 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aort... |
OMIM:267010 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrop... |
ORPHA:263494 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy |
OMIM:620270 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Elevated circulating... |
OMIM:613752 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... |
ORPHA:85443 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy |
ORPHA:254857 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyo... |
OMIM:619433 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cantu Syndrome |
|
Bicuspid aortic valve, Short neck, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa |
OMIM:618499 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... |
ORPHA:90308 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block |
OMIM:530000 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Myopathy, Cardiomyopathy, D... |
OMIM:232400 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
Grange Syndrome |
|
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... |
OMIM:602531 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ... |
OMIM:619064 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root an... |
OMIM:614437 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Patent foramen ovale |
OMIM:619184 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Familial Atrial Fibrillation |
|
Palpitations, Atrial fibrillation, Syncope, Myocardial infarction |
ORPHA:334 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne... |
ORPHA:558 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... |
OMIM:154700 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... |
ORPHA:369840 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Cardiac conduction abnormality, Elbow flexion contractu... |
ORPHA:97244 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter... |
ORPHA:2326 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, A... |
OMIM:618870 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia |
OMIM:616516 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Death in infancy, Hypertrophic cardiomyopathy |
OMIM:618229 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... |
OMIM:618316 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Death in childhood |
OMIM:618683 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy |
ORPHA:93476 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis |
ORPHA:459061 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... |
OMIM:606003 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... |
ORPHA:358 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... |
OMIM:212140 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... |
OMIM:605376 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Myopathy, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:99944 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Transient isch... |
ORPHA:324 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... |
OMIM:618914 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Abnormal heart morphology, Telangiectasia |
ORPHA:93400 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Limb muscle... |
OMIM:266500 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... |
OMIM:613155 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomy... |
OMIM:618815 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Decreased liver function |
ORPHA:67048 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Death in childhood, Hypert... |
OMIM:246900 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... |
ORPHA:284979 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... |
ORPHA:506358 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis |
ORPHA:75496 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Dilated cardiomyopathy |
OMIM:618097 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Internal hemorrhage... |
ORPHA:335 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... |
OMIM:117550 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:157973 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Rhabdomyolysis, Ventricular tachycardia, C... |
ORPHA:159 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa... |
ORPHA:228305 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... |
OMIM:618494 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Asbestos Intoxication |
|
Cyanosis, Right ventricular failure, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Hepatojugular... |
ORPHA:2302 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Death in childhood |
OMIM:269920 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cyanosis, Car... |
ORPHA:391428 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Telangiectasia |
ORPHA:101028 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Epi... |
ORPHA:293939 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Myopathy |
ORPHA:26792 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... |
OMIM:618234 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... |
OMIM:235200 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele, Short neck |
OMIM:613885 |
Cog1-Cdg |
|
Pulmonary arterial hypertension, Atrial septal dilatation |
ORPHA:263508 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis |
OMIM:202650 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... |
OMIM:601927 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Flexion contracture, Mild intrauterine growth retardation, Abnormal cardiac septum... |
OMIM:308050 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... |
ORPHA:466650 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... |
OMIM:615351 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... |
OMIM:601992 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Con... |
ORPHA:1194 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Heart murmur, Abnormal heart morphology |
ORPHA:1867 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Car... |
ORPHA:365 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... |
ORPHA:96147 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... |
OMIM:614185 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Short neck, Increased nuchal translucency, Single ventricle, Oligohydram... |
OMIM:619879 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS comple... |
ORPHA:273 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Cardiomegaly |
OMIM:613576 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Pulmonary ar... |
ORPHA:2038 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... |
OMIM:601808 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse |
ORPHA:230839 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w... |
OMIM:616479 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect |
OMIM:620194 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
OMIM:619688 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension |
OMIM:619758 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenos... |
OMIM:208050 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Mitral valve prolapse, Knee flexion contracture, Elevat... |
OMIM:606631 |
Alg1-Cdg |
|
Cardiomyopathy, Decreased liver function, Abnormal heart morphology |
ORPHA:79327 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Short neck, Anemia, Abnormal cardiac septum morphology, Throm... |
ORPHA:3319 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Abnormal left ventricular... |
OMIM:301056 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... |
OMIM:617506 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Pal... |
OMIM:615355 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
ORPHA:96170 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Stroke-like epis... |
ORPHA:70472 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612562 |
Polyarteritis Nodosa |
|
Pericarditis, Cutis marmorata, Raynaud phenomenon, Erythema, Cardiomyopathy, Hypertension |
ORPHA:767 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... |
ORPHA:171442 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... |
OMIM:602668 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f... |
ORPHA:352447 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... |
ORPHA:79102 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Abnormal lact... |
ORPHA:42 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... |
OMIM:614816 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Purpura |
OMIM:604250 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia |
ORPHA:2257 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Double outlet righ... |
OMIM:614886 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Alg9-Cdg |
|
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... |
ORPHA:79328 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri... |
OMIM:252011 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Hy... |
OMIM:613561 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... |
ORPHA:369891 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Shprintzen Omphalocele Syndrome |
|
Short stature, Laryngeal hypoplasia, Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly sh... |
OMIM:182210 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis |
OMIM:618624 |
Treacher Collins Syndrome 1 |
|
Hypoplasia of the pharynx, Abnormal heart morphology |
OMIM:154500 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure |
OMIM:616483 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Cardiomyopath... |
ORPHA:2394 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... |
OMIM:619573 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy |
OMIM:619322 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... |
ORPHA:505248 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... |
OMIM:208000 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgita... |
ORPHA:1101 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve |
OMIM:618156 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Flexion contracture, Congenital diaphragmatic hernia, D... |
OMIM:618651 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Wrinkly Skin Syndrome |
|
Muscular ventricular septal defect, Atrial septal dilatation |
OMIM:278250 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr... |
OMIM:613011 |
Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia, Facial palsy |
ORPHA:772 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega... |
OMIM:201475 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Trisomy 17P |
|
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart |
ORPHA:261290 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardio... |
OMIM:256550 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Intrinsic hand muscle atrophy |
OMIM:618569 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... |
ORPHA:3099 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con... |
OMIM:211960 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... |
OMIM:230500 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy |
OMIM:610131 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:611126 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia |
ORPHA:500533 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Wrinkly Skin Syndrome |
|
Atrial septal dilatation, Prominent veins on trunk |
ORPHA:2834 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Hypoplasia of the pharynx, Anteroposteriorly shortened larynx, Laryngeal hypoplasia, Webbed neck |
ORPHA:3164 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:2928 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Muscular ve... |
ORPHA:79324 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase conc... |
OMIM:619386 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... |
ORPHA:254886 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy |
OMIM:312750 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... |
OMIM:212350 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse |
OMIM:225320 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Mitral regurgitation, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:620244 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Supr... |
OMIM:300855 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Splenomegal... |
ORPHA:565612 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Proximal Myopathy With Extrapyramidal Signs |
|
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... |
ORPHA:401768 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology |
OMIM:601612 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Atrial septal defec... |
ORPHA:1667 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Jaundice, Hepatosplenomegaly, Hypertrophic ca... |
OMIM:619902 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect |
OMIM:615476 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Poor wound healing, Dilated cardiomyopathy, Cardiomyopathy, Mitral re... |
OMIM:212112 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia |
ORPHA:480864 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... |
ORPHA:209905 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Ventricular septal defect, Mitral regurgitation, Aortic ... |
OMIM:615582 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Intrahepatic cholesta... |
OMIM:606812 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... |
OMIM:300707 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Decreased liver function, Death in infancy |
OMIM:618839 |
Meester-Loeys Syndrome |
|
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... |
OMIM:300989 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... |
OMIM:620300 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Achalasia |
ORPHA:3386 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Gaucher Disease Type 1 |
|
Pancytopenia, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, Pedal edema, G... |
ORPHA:77259 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aort... |
OMIM:208540 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenom... |
OMIM:616589 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, ... |
OMIM:225750 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... |
ORPHA:581 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
Central Core Disease |
|
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... |
ORPHA:597 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy, Death in infancy |
OMIM:619046 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri... |
ORPHA:261337 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect |
OMIM:619951 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarctation of aorta |
ORPHA:2780 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... |
OMIM:601776 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... |
OMIM:232500 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Conges... |
ORPHA:367 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Congestive hear... |
ORPHA:2331 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... |
OMIM:615418 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Death in infancy, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Erythema, Mitra... |
ORPHA:2556 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr... |
OMIM:603387 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Right bundle branch block, ... |
OMIM:617402 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra... |
ORPHA:287 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... |
OMIM:607598 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Elevated circulat... |
ORPHA:52430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Camptodactyly, Atrial sept... |
OMIM:301039 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:619648 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec... |
ORPHA:57 |
Refsum Disease |
|
Splenomegaly, Cardiomyopathy, Heart block, Skeletal muscle atrophy |
ORPHA:773 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation |
OMIM:620072 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:251290 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Intimal thickening in the coronary arteries, Mitral regurgitation |
OMIM:253010 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... |
OMIM:235510 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Hypoxemia... |
ORPHA:199241 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... |
ORPHA:163956 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:369 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca... |
ORPHA:79279 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... |
ORPHA:521411 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia |
ORPHA:276432 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Sinus tachycardia, Contractures of the large joints |
OMIM:616716 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Stroke, Cardiomyopathy |
ORPHA:79312 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... |
ORPHA:261494 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function, Elevated circulating alanine ami... |
OMIM:618805 |
Anauxetic Dysplasia 1 |
|
Aortic valve stenosis |
OMIM:607095 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Syndromic Diarrhea |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:84064 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... |
ORPHA:397 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Ascites, Decreased proportion of CD3-positive T cells,... |
ORPHA:90362 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm |
OMIM:130720 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Myopathy, Cardiomyopathy, Stillbirth, Decreased liver function, D... |
OMIM:614922 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Cardiomegaly, Hypertension, Death in childhood, Pulmonary arterial hypertension... |
OMIM:613320 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiom... |
OMIM:610505 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Death in infancy, Ventricular septal defect, Shoulder flexion contracture, Muscu... |
OMIM:210710 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy |
OMIM:618241 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Neonatal death, ... |
OMIM:620167 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale |
OMIM:619179 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Mel... |
ORPHA:100080 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect |
ORPHA:1439 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Vascular skin abnormality, Cardiomegaly |
ORPHA:3137 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Reduced subcutaneous adipose tissue, Abnormal atrioven... |
ORPHA:280365 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy |
OMIM:300438 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Death in infancy, Cardiac arrest, Myofiber disarray, Myopathy, Increased variabilit... |
OMIM:604377 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus totalis, Pulmonary artery h... |
ORPHA:991 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Patent ductus arteriosus, Ragged-red m... |
ORPHA:17 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao... |
ORPHA:453499 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension |
ORPHA:2260 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic ... |
ORPHA:1166 |
Alg3-Cdg |
|
Abnormal circulating enzyme concentration or activity, Coarctation of the descending aortic arch,... |
ORPHA:79321 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Death in childhood, Hypertr... |
OMIM:612938 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Reduced beta-hexosaminidase activ... |
OMIM:268800 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Edema, Pericardial effusion, Hepatosplenomegaly, Lower limb hyper... |
OMIM:619487 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Mahvash Disease |
|
Palpitations |
OMIM:619290 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Decreased liver function |
OMIM:618835 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Splenomegaly |
OMIM:616651 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... |
OMIM:602782 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Cyanosis, Hypoxemia |
ORPHA:79126 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Subvalvular aortic stenosis |
OMIM:600430 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra... |
ORPHA:391487 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
ORPHA:79230 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... |
ORPHA:280679 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Congestive heart failure, Right bun... |
OMIM:617403 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomy... |
OMIM:231530 |
Scleromyxedema |
|
Transient ischemic attack, Abnormal coronary artery morphology, Hypoperistalsis, Raynaud phenomen... |
ORPHA:167635 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy |
ORPHA:324525 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy |
OMIM:620326 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Cutis marmorata, Raynaud phenomenon, Heart block, Arterial occlusi... |
ORPHA:416 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... |
ORPHA:746 |
Isolated Atp Synthase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Sandhoff Disease, Infantile Form |
|
Reduced beta-hexosaminidase activity, Mitral valve prolapse, Hepatosplenomegaly, Mitral regurgita... |
ORPHA:309155 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Cutis marmorata |
OMIM:300590 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Hepati... |
ORPHA:509 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly |
OMIM:619576 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prola... |
OMIM:618371 |
Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Reduced carnitine O-palmitoyltransferase... |
ORPHA:228308 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Arrhythmia |
OMIM:620208 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Bruising susceptibility, Petechiae, Mitral valve prolapse |
OMIM:225310 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Pl... |
ORPHA:93552 |
Geleophysic Dysplasia 1 |
|
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ... |
ORPHA:465508 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... |
OMIM:608328 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
ORPHA:1842 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... |
OMIM:613355 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... |
OMIM:618282 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Cardiac arrest |
ORPHA:168593 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Congestiv... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Rec... |
OMIM:607143 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic r... |
ORPHA:280633 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Patent foramen ovale, Heart murmur |
OMIM:618653 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... |
OMIM:259900 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... |
ORPHA:100082 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy o... |
ORPHA:251071 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Thrombocytopenia, Patent ductus arteriosus, Splenomegal... |
ORPHA:290 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ... |
OMIM:618460 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Death in infancy |
OMIM:609069 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Abnormal... |
ORPHA:286 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Hypoxemia, Hypertension, Stroke |
OMIM:603903 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... |
OMIM:616368 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... |
OMIM:616777 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Arterioven... |
ORPHA:974 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cor triatriatum, Secundum atrial septal defect, Mitral regurgitation, Pulmonic stenosis, Pulmonar... |
OMIM:612541 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation... |
OMIM:618454 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:544469 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia |
ORPHA:2238 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic... |
OMIM:613177 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... |
OMIM:602541 |
Typhoid |
|
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest |
ORPHA:99745 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Cardiomyopathy |
ORPHA:27 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion |
OMIM:617822 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture |
OMIM:618120 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se... |
ORPHA:352490 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Distal amyotrophy |
OMIM:617183 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... |
ORPHA:96121 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... |
OMIM:616878 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect... |
OMIM:616364 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Facial erythema, Diaph... |
OMIM:619503 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ... |
OMIM:214800 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Hypertrophic cardiomyopathy |
OMIM:611719 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypo... |
ORPHA:100079 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ... |
ORPHA:79083 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... |
OMIM:300963 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... |
OMIM:607155 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Patent ductus arteriosus, Achilles tendon contracture, Knee fle... |
OMIM:618076 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... |
OMIM:301022 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation |
OMIM:613563 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Mitral regurgitation, Patent foramen ovale |
ORPHA:457395 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... |
OMIM:614857 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations |
OMIM:188580 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect |
ORPHA:1035 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatitis |
ORPHA:848 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... |
OMIM:106700 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke |
ORPHA:268943 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis |
ORPHA:2901 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... |
ORPHA:98913 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Isomerism, Transposition of the great arteries, Neonatal death, Atrioventricular ca... |
OMIM:314390 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis |
ORPHA:94090 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... |
ORPHA:254346 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:464311 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy |
OMIM:614299 |
Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ... |
ORPHA:2348 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Poor wound healing, Proximal amyotrophy, Mitral valve prolapse, Bruisi... |
OMIM:606408 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Aortic root aneurysm, Webbe... |
ORPHA:536532 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... |
ORPHA:3071 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... |
ORPHA:2745 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Elevated circulating aspartate ami... |
OMIM:608836 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:610733 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... |
OMIM:123700 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Flexion contracture, Pulmon... |
OMIM:608149 |
Propionic Acidemia |
|
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Limb h... |
OMIM:606054 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Pal... |
ORPHA:97287 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
Acrocardiofacial Syndrome |
|
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctatio... |
ORPHA:2008 |
Hardikar Syndrome |
|
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... |
OMIM:301068 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension |
ORPHA:70587 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia |
OMIM:617710 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmoni... |
ORPHA:536471 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Mitral valve prolapse, ... |
OMIM:180849 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... |
ORPHA:444077 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopu... |
OMIM:620025 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Fibrochondrogenesis 1 |
|
Patent foramen ovale |
OMIM:228520 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature |
OMIM:201470 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnormality of the neck... |
ORPHA:464329 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Cyanosis, Death in infancy, Splenomegaly, Ragged-red muscl... |
OMIM:252010 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:464306 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Elevated circulating ... |
OMIM:613095 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... |
ORPHA:2848 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:3201 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Thrombocytopeni... |
ORPHA:781 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Hepatomegaly, Bundle branch block, Death in infancy, Ventricular septal de... |
ORPHA:373 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries |
OMIM:617557 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217085 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... |
OMIM:620005 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Conge... |
ORPHA:354 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Heart murmur |
ORPHA:2728 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619053 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:618810 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... |
OMIM:105210 |
Mend Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217093 |
Poems Syndrome |
|
Edema, Pericardial effusion, Thrombocytosis, Pleural effusion, Ascites, Polycythemia |
ORPHA:2905 |
Vici Syndrome |
|
Cardiomyopathy, Death in infancy |
ORPHA:1493 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valve prolapse |
OMIM:619543 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral regurgitation, L... |
OMIM:619127 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... |
OMIM:212065 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Progeroid facial appearance, Abnormal cardiovascular... |
ORPHA:79086 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... |
ORPHA:727 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... |
OMIM:170390 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:616268 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly |
ORPHA:353298 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Erythema |
OMIM:608068 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... |
ORPHA:261311 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... |
OMIM:105650 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Reduced carnitine O-palmitoyltransferase ... |
ORPHA:157 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Abnormal EKG, Miscarriage, Myocarditis, Splenomegaly, Jaundice, Conge... |
ORPHA:3385 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal circulating enzyme concentration or activity, Decreased muscle mass, Muscle fiber atroph... |
ORPHA:1900 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:5 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
Alagille Syndrome |
|
Ventricular septal defect, Telangiectasia of the skin, Hypertension, Atrial septal defect, Periph... |
ORPHA:52 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy |
OMIM:251000 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... |
ORPHA:98908 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453504 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata |
OMIM:613398 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:352665 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Edema, Pericardial effusion, Thrombocytopenia, Splen... |
ORPHA:167 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Stroke-like episode |
OMIM:222300 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Cutis marmorata, Stroke, Myocardial infarction, Mitral valve prolapse |
OMIM:236200 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, A... |
ORPHA:464321 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... |
ORPHA:100075 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Atrial septal defect, Left ventricul... |
OMIM:613610 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Pulmonary hypoplasia, Patent fo... |
OMIM:269860 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Thrombocytopenia, Splenomegaly, Olig... |
OMIM:615846 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Agel Amyloidosis |
|
Facial palsy, Cardiomyopathy, Arrhythmia, Bruising susceptibility, Dermatological manifestations ... |
ORPHA:85448 |
Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
ORPHA:2308 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy,... |
ORPHA:528 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Lower limb amyotrophy |
ORPHA:496790 |
Hurler Syndrome |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Angina pectoris, Camptodactyly o... |
ORPHA:93473 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Death in early adulthood, Abnormal tricuspid valve morphology, Abnormal ... |
ORPHA:192 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse |
ORPHA:98 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro... |
ORPHA:1272 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353277 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... |
ORPHA:141127 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Congestive he... |
OMIM:615895 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Tachycardia, Cyanosis |
ORPHA:330012 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Myopathy, Shoulder girdle muscle wea... |
ORPHA:98907 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonar... |
ORPHA:60025 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Flexion cont... |
OMIM:619383 |
Mirage Syndrome |
|
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Facial palsy, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Right ... |
OMIM:620186 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen ovale, Abnormal heart ... |
ORPHA:177907 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Hermansky-Pudlak Syndrome 1 |
|
Epistaxis, Hematochezia, Cardiomyopathy, Ecchymosis, Bruising susceptibility |
OMIM:203300 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Muscular dystrophy |
ORPHA:88618 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Hepatic failure, Acrocyanosis, Internal hemorrhage |
ORPHA:49566 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Elevated alkaline phosphatase of... |
ORPHA:51608 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy |
OMIM:252900 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Congestive heart failure, Flexion contractu... |
OMIM:617303 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Degcags Syndrome |
|
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pulmonic stenosis, Atrial sept... |
OMIM:619488 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h... |
OMIM:245150 |
Mend Syndrome |
|
Aortic valve stenosis |
OMIM:300960 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Type 2 muscle fiber atrophy, Viral infection-i... |
ORPHA:99845 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Left superior vena cava draining to coronary sinus |
OMIM:611961 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Tetrasomy 9P |
|
Pericarditis, Myositis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, A... |
ORPHA:3310 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Su... |
OMIM:614114 |
Noonan Syndrome 13 |
|
Atrial septal defect, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse |
OMIM:619087 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... |
ORPHA:115 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Cyanosis |
ORPHA:2886 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:217980 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... |
OMIM:608013 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... |
OMIM:201000 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mitral valve prolapse |
ORPHA:137834 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cardiomyopathy |
ORPHA:445038 |
Brittle Cornea Syndrome 1 |
|
Palmoplantar cutis laxa, Mitral valve prolapse |
OMIM:229200 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... |
ORPHA:258 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, A... |
ORPHA:79474 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:93274 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... |
ORPHA:254892 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Perimembranous ventricular septal defect, Contracture of the distal interphalangeal... |
ORPHA:83617 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cutis marmorata, Cardiomega... |
ORPHA:51 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... |
OMIM:253220 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Bruising susceptibility, Fragile... |
OMIM:130000 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:2655 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta |
ORPHA:1772 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Card... |
ORPHA:48435 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Mor... |
OMIM:613309 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Death in child... |
OMIM:220110 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema... |
ORPHA:2136 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
Botulism |
|
Arrhythmia |
ORPHA:1267 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... |
ORPHA:2712 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Cyanosis, Splenomegaly, Jaundice, Bradycardia, Decreased liver functio... |
ORPHA:90051 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:615471 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Hypertension, ... |
OMIM:220111 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Erythem... |
ORPHA:221 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Congenital contracture, Patent ductus arte... |
ORPHA:261279 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Flexion contracture, Cardiomyopathy, Mitral regurgitation, Macroglossia,... |
OMIM:253200 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Hepatic failure, Decreased level of coenzy... |
OMIM:607426 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia |
ORPHA:171876 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... |
ORPHA:550 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614052 |
Mgat2-Cdg |
|
Arrhythmia, Ventricular septal defect, Reflex asystolic syncope, Abnormal heart morphology |
ORPHA:79329 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... |
OMIM:618397 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Foodborne Botulism |
|
Arrhythmia |
ORPHA:228371 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:300990 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... |
OMIM:175050 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... |
ORPHA:1507 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Restrictive cardiomyopathy |
ORPHA:822 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... |
ORPHA:3338 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:881 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Neck muscle hypertrophy, Supraventricular arrhythmia |
ORPHA:420492 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Tetrasomy 5P |
|
Cyanosis, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Heart m... |
ORPHA:3309 |
Gitelman Syndrome |
|
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Erythema, Death in childhood, Left ventricular hypertrophy |
OMIM:618321 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... |
ORPHA:1692 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Coffin-Siris Syndrome 12 |
|
Tetralogy of Fallot, Patent foramen ovale, Facial palsy, Heart murmur |
OMIM:619325 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Skeletal muscle steatosis |
ORPHA:436271 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Hypercapnia |
OMIM:618222 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Abnormal tendon morpholo... |
ORPHA:579 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Cyanosis, Coarctation of aorta |
ORPHA:1199 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... |
OMIM:607014 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Limb joint contracture, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercapnia, Dilated cardiomyo... |
OMIM:164310 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Elevated gamma-glutamyltransferase le... |
OMIM:618329 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Carotid artery stenosis, Poor wound hea... |
OMIM:618000 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... |
ORPHA:1335 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:96149 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Congestiv... |
ORPHA:31826 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Mitral valve ... |
OMIM:616914 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Premature grayi... |
ORPHA:769 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale |
ORPHA:477993 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619314 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:300867 |
Friedreich Ataxia |
|
Hand muscle atrophy, Cardiomyopathy |
ORPHA:95 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Generalized amyotrophy, Abnormal circulating enzyme concentration or activity, Li... |
ORPHA:572798 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology |
ORPHA:261197 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Neurocardiofaciodigital Syndrome |
|
Short stature, Patent ductus arteriosus, Double inlet left ventricle, Atrial septal defect, Tetra... |
OMIM:619869 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... |
OMIM:619475 |
Holoprosencephaly 1 |
|
Short stature, Single ventricle |
OMIM:236100 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... |
ORPHA:90349 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st... |
ORPHA:96167 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Diastasis recti, Cardiom... |
OMIM:252500 |
Monosomy 13Q34 |
|
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu... |
ORPHA:231226 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase activity, Macroglossia, Cherry r... |
ORPHA:79255 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Low alkaline phosphatase, Macroglossia, ... |
OMIM:618143 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Neonatal death, Pulmonary arterial hypertension, Misalignment of the ... |
OMIM:265120 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... |
OMIM:616843 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Cardiomyopathy |
OMIM:616084 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Aplasia of the right hemidiaphragm, Patent foramen ovale, Epistaxis, Limb hypertonia |
OMIM:619841 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... |
ORPHA:97360 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... |
ORPHA:902 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:3378 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Facial wrinkling, Coarctation of aorta, Mitral valve prolapse, ... |
ORPHA:93932 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Pearson Syndrome |
|
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614576 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Autosomal Dominant Polycystic Kidney Disease |
|
Mitral valve prolapse, Hypertension, Dilatation of the cerebral artery, Aortic root aneurysm, Abn... |
ORPHA:730 |
Fucosidosis |
|
Hepatomegaly, Angiokeratoma, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherr... |
OMIM:230000 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia |
ORPHA:139411 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve |
OMIM:218330 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ... |
ORPHA:175 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:300998 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Brittle Cornea Syndrome |
|
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia, Camptodactyly of finger |
ORPHA:3220 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Bartsocas-Papas Syndrome 1 |
|
Arthrogryposis multiplex congenita, Flexion contracture, Patent foramen ovale |
OMIM:263650 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis |
OMIM:614749 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch, Abnormal heart morphology... |
ORPHA:314588 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension, Flexion contracture, Camptodactyly |
OMIM:620029 |
16P11.2P12.2 Microdeletion Syndrome |
|
Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger |
ORPHA:261211 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot |
OMIM:617925 |
Noonan Syndrome |
|
Pulmonary artery stenosis, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abno... |
ORPHA:648 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces |
OMIM:617190 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation ... |
OMIM:617602 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... |
ORPHA:255210 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu... |
ORPHA:231214 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Hematochezia, M... |
ORPHA:79076 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect |
OMIM:264090 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Pr... |
OMIM:256040 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia |
ORPHA:96191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Pseudoaminopterin Syndrome |
|
Patent foramen ovale |
ORPHA:221120 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... |
ORPHA:261330 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:607721 |
Ivic Syndrome |
|
Arrhythmia |
ORPHA:2307 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Patent ductus arteriosus |
OMIM:615398 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hypertr... |
ORPHA:309854 |
Holoprosencephaly 2 |
|
Single ventricle |
OMIM:157170 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmona... |
OMIM:256520 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis |
ORPHA:94089 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... |
ORPHA:163979 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger |
OMIM:164200 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1790 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Excessive wrinkled skin, Pulmonic stenosis, Atrial septal defect... |
ORPHA:1340 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect |
ORPHA:452 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis |
ORPHA:231580 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contr... |
ORPHA:90324 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Arrhythmia |
OMIM:171480 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Cyanosis, Hepatic failure |
OMIM:261680 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti... |
ORPHA:567 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:90289 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Bruising susceptibility, Mitral valve prolapse |
OMIM:166200 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma |
ORPHA:2874 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra... |
OMIM:313850 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... |
ORPHA:2637 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Multiple joint co... |
ORPHA:506 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1860 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Aortic ane... |
OMIM:203500 |
Lymphangioleiomyomatosis |
|
Ascites, Chylothorax, Chylopericardium, Lymphedema |
ORPHA:538 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Familial Mediterranean Fever |
|
Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction |
ORPHA:342 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... |
ORPHA:508488 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Tularemia |
|
Pharyngitis, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Anemia, Pleural effusion, ... |
ORPHA:3392 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Abnormal lung morphology, Patent ductus arteriosus, Abnormal heart mor... |
ORPHA:1708 |
Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Achilles tendon contracture, Patent ductus arteriosus, Congenita... |
ORPHA:363528 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of aorta, Abnormal ao... |
ORPHA:1052 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... |
ORPHA:464738 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Internal carotid artery dissection, Bicuspid aortic valve, Cerebral arteriovenous malformation, M... |
OMIM:150230 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:65286 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Di... |
ORPHA:14 |
Castleman Disease |
|
Restrictive cardiomyopathy, Jaundice |
ORPHA:160 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Splenomegaly, G... |
OMIM:608594 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Recurrent respiratory infections, Patent ductus arteriosus ... |
ORPHA:251061 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
ORPHA:33001 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Bruising susceptibility, Epistaxis |
ORPHA:79430 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... |
ORPHA:590 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Macroglossia, Patent ductus arteriosus, Camptodactyly |
ORPHA:397709 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy |
ORPHA:3463 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Low alkaline phosphatase, Abnormal heart morphology, Atrial septal defe... |
ORPHA:369837 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:618005 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death |
OMIM:620024 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr... |
ORPHA:264450 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Contracture of the proximal int... |
OMIM:601559 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Death in childhood |
OMIM:618278 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Splenomegaly, G... |
OMIM:269700 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue |
ORPHA:2609 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a... |
OMIM:619575 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger, Hypotension |
ORPHA:2135 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Cardiomyopat... |
ORPHA:33364 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:263520 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium |
OMIM:225500 |
Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... |
OMIM:218040 |
Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mitral valve prola... |
ORPHA:2462 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis |
OMIM:207950 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu... |
ORPHA:3474 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty |
ORPHA:91347 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse |
OMIM:104350 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis |
OMIM:257300 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... |
ORPHA:90348 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Secundum atrial septal defect, Subarterial ventricular septal defect |
ORPHA:99646 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Myasthenia Gravis |
|
Raynaud phenomenon, Myositis, Acrocyanosis, Hepatitis |
ORPHA:589 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Genitopatellar Syndrome |
|
Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Arthrogryp... |
ORPHA:85201 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... |
OMIM:605130 |
Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Heart murmur, Mitral re... |
OMIM:614866 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Hydrolethalus Syndrome 1 |
|
Complete atrioventricular canal defect, Stillbirth, Agenesis of the diaphragm, Ventricular septal... |
OMIM:236680 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:115150 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus |
OMIM:609625 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect |
OMIM:207410 |
Kleefstra Syndrome 1 |
|
Macroglossia, Conotruncal defect |
OMIM:610253 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog... |
ORPHA:2152 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... |
OMIM:216340 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abnormal hear... |
ORPHA:261537 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... |
OMIM:135500 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating alk... |
OMIM:124000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261552 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... |
ORPHA:94093 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Splenomegaly, Pancytopenia, Pleural effusion |
OMIM:181000 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Hypertrophic cardiomyopathy |
OMIM:616539 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Myositis, Muscular edema |
ORPHA:3165 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Macroglossia, Mitral valve prolapse |
ORPHA:369950 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect |
ORPHA:79243 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Limb hypertonia |
OMIM:619580 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent respiratory infections, Abn... |
ORPHA:667 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:602535 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:618162 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Increased circulating lactate dehydrogenase concentration, Foam cells, Cyanosis |
ORPHA:747 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:603467 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy |
ORPHA:68 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Camptodactyly, Ankle flexion contracture, Knee flexion contracture |
ORPHA:435938 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis |
ORPHA:79444 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:605039 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Distal Deletion 10Q |
|
Atrial septal defect, Facial diplegia, Scapular winging, Patent ductus arteriosus |
ORPHA:96148 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy |
OMIM:618891 |
Neuroocular Syndrome |
|
Patent foramen ovale |
OMIM:619539 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect |
OMIM:619471 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:243150 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h... |
OMIM:235730 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... |
ORPHA:2162 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arthrogryposis multiplex congenita, Arrhythmia |
ORPHA:163746 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Abnormal subcutaneous fat tiss... |
ORPHA:1328 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
OMIM:223900 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Congenital Myopathy 12 |
|
Pulmonary artery stenosis, Jaw contracture, Joint contracture of the hand, Camptodactyly |
OMIM:612540 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
OMIM:300968 |
Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Congenital diaphragmatic he... |
OMIM:614080 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Char Syndrome |
|
Ventricular septal defect |
ORPHA:46627 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... |
OMIM:312870 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia |
OMIM:619482 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,... |
OMIM:601803 |
Wiskott-Aldrich Syndrome |
|
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... |
ORPHA:906 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Pharyngitis, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia,... |
ORPHA:486 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... |
ORPHA:84 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Pulmonary arterial hypertension, Cyanosis |
OMIM:610913 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Plague |
|
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:707 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Calcinosis |
ORPHA:79443 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
ORPHA:1764 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:1465 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... |
ORPHA:227990 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arterios... |
OMIM:617140 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
Lujo Hemorrhagic Fever |
|
Pharyngitis, Stiff neck, Facial edema, Myocarditis, Leukocytosis, Periorbital edema, Cerebral ede... |
ORPHA:319213 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... |
OMIM:130050 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... |
ORPHA:227982 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonar... |
ORPHA:96334 |
Doors Syndrome |
|
Double outlet right ventricle |
ORPHA:79500 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect |
OMIM:219730 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus... |
OMIM:270400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t... |
ORPHA:363611 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect |
OMIM:300514 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal hea... |
OMIM:615873 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Flexion contracture, Camptodactyly |
ORPHA:86309 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension |
OMIM:300896 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... |
OMIM:118450 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee fle... |
OMIM:614976 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect |
OMIM:620076 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect |
OMIM:616920 |
Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:616546 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Lower... |
ORPHA:459070 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:147791 |
Staphylococcal Necrotizing Pneumonia |
|
Pharyngitis, Neutrophilia, Leukocytosis, Leukopenia, Pleural empyema, Pleural effusion |
ORPHA:36238 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect |
OMIM:617164 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Flexion contracture |
ORPHA:398069 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Renova... |
ORPHA:97685 |
Zellweger Syndrome |
|
Death in infancy, Ventricular septal defect |
ORPHA:912 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Trisomy 18 |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3380 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... |
ORPHA:3047 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect |
ORPHA:77298 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Camptodactyly, Atrial septal d... |
OMIM:300373 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Bacterial Toxic-Shock Syndrome |
|
Pharyngitis, Myositis, Sinusitis, Edema, Myocarditis, Increased circulating myelocyte count, Incr... |
ORPHA:36234 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Hyp... |
ORPHA:508 |
Avian Influenza |
|
Pharyngitis, Rhabdomyolysis, Leukopenia, Pleural effusion, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... |
ORPHA:800 |
Rat-Bite Fever |
|
Pharyngitis, Pericarditis, Myocarditis, Endocarditis, Tendonitis, Anemia |
ORPHA:31205 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Trisomy 1Q |
|
Ventricular septal defect |
ORPHA:261344 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Ventricular septal defect |
OMIM:235255 |
Stickler Syndrome |
|
Macroglossia, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse |
ORPHA:828 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... |
ORPHA:124 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... |
ORPHA:797 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus, Coarctation of a... |
OMIM:274000 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect |
OMIM:106260 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect |
OMIM:612530 |
Chromosome 16P13.3 Duplication Syndrome |
|
Facial hypotonia, Ventricular septal defect, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
Restrictive Dermopathy |
|
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc... |
ORPHA:1662 |
Cyclic Neutropenia |
|
Pharyngitis, Sinusitis, Cyclic neutropenia, Decreased eosinophil count, Lymphopenia, Thrombocytop... |
ORPHA:2686 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect |
OMIM:300472 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Immunodeficiency 49 |
|
Pulmonary artery stenosis |
OMIM:617237 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2538 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Arthrogryposis multiplex congenita, Dilation of Virchow-Robin spaces |
OMIM:619512 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis |
OMIM:213980 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Congenital diaphragmatic herni... |
ORPHA:280 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Patent ductus arteriosus, Flexion contracture, Elbow flexion contracture, Knee f... |
OMIM:300868 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Proximal Renal Tubular Acidosis |
|
Hypovolemia, Subvalvular aortic stenosis |
ORPHA:47159 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:117650 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
OMIM:222448 |
Limb Body Wall Complex |
|
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology |
ORPHA:2369 |
Fryns Syndrome |
|
Ventricular septal defect, Aplasia of the left hemidiaphragm, Pulmonary hypoplasia, Chylothorax, ... |
OMIM:229850 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve |
OMIM:309800 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Death in adolescence |
OMIM:619229 |
Acromegaly |
|
Macroglossia, Hypertension, Hypertrophic cardiomyopathy, Mitral regurgitation |
ORPHA:963 |
Somatomammotropinoma |
|
Macroglossia, Hypertension, Hypertrophic cardiomyopathy, Mitral regurgitation |
ORPHA:314769 |
Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect |
OMIM:609460 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lu... |
ORPHA:818 |
Whim Syndrome |
|
Pharyngitis, Sinusitis, Recurrent upper respiratory tract infections, Tetralogy of Fallot, Abnorm... |
ORPHA:51636 |
C Syndrome |
|
Ventricular septal defect |
OMIM:211750 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... |
OMIM:309500 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Cockayne Syndrome A |
|
Hip contracture, Hypertension, Arrhythmia |
OMIM:216400 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Weakness of facial musculature, Cyanosis, Knee flexion contracture |
OMIM:617239 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Atrial septal defect, Torticollis, Total anomalous pulmonary venous return, Knee flexion contracture |
OMIM:609945 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Death in childhood |
OMIM:214100 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Hypertension, Shortened QT interval, Hematemesis |
ORPHA:652 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus after birth at term... |
ORPHA:500150 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Cockayne Syndrome B |
|
Hypertension, Arrhythmia |
OMIM:133540 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Chylothorax |
ORPHA:2526 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect |
OMIM:606232 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect |
ORPHA:1393 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... |
ORPHA:285 |
Pallister-Hall Syndrome |
|
Neonatal death, Ventricular septal defect |
OMIM:146510 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:2092 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... |
ORPHA:709 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect |
ORPHA:1655 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect |
OMIM:269150 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Anasarca, Hypertroph... |
ORPHA:79318 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Microsporidiosis |
|
Pharyngitis, Myositis, Sinusitis, Abnormal vocal cord morphology, Abnormality of the spleen, Myoc... |
ORPHA:2552 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Poland Syndrome |
|
Atrial septal defect, Aplasia of the pectoralis major muscle, Dextrocardia, Congenital diaphragma... |
ORPHA:2911 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrial septal defect, Hypertension, Recurrent upper respiratory tract infections, Corneal neovasc... |
OMIM:308205 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... |
OMIM:249000 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Restrictive Dermopathy 1 |
|
Atrial septal defect, Stillbirth, Neonatal death |
OMIM:275210 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect |
ORPHA:268249 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Cyanosis |
ORPHA:293987 |
De Barsy Syndrome |
|
Ventricular septal defect |
ORPHA:2962 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... |
ORPHA:2044 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... |
OMIM:243800 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... |
OMIM:261540 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect |
OMIM:227645 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect |
OMIM:618268 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... |
OMIM:147920 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pat... |
OMIM:135900 |
Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Genitopatellar Syndrome |
|
Hip contracture, Ventricular septal defect, Knee flexion contracture, Pulmonary hypoplasia, Atria... |
OMIM:606170 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta... |
ORPHA:672 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:194190 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Coffin-Lowry Syndrome |
|
Mitral regurgitation, Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect |
OMIM:122470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect |
OMIM:619418 |
Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Small cell lung carcinoma,... |
ORPHA:821 |
Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis |
OMIM:614099 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect |
OMIM:206900 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Goodpasture Syndrome |
|
Cyanosis, Pulmonary hemorrhage |
OMIM:233450 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect |
ORPHA:436252 |
Cornelia De Lange Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:199 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect |
OMIM:618846 |
Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect |
OMIM:102500 |
Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Dilatation of the sinus of Valsalva, Elbow contracture |
OMIM:304120 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con... |
OMIM:268300 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Igg4-Related Submandibular Gland Disease |
|
Pharyngitis, Eosinophilia, Facial edema, Periorbital edema, Xerostomia |
ORPHA:449432 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect |
ORPHA:513456 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect |
ORPHA:434179 |
Proboscis Lateralis |
|
Ventricular septal defect |
ORPHA:141099 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Digeorge Syndrome |
|
Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:188400 |
Craniofacial Microsomia 1 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |
Thyroid Ectopia |
|
Macroglossia, Jaundice |
ORPHA:95712 |
Athyreosis |
|
Growth delay, Macroglossia, Short stature |
ORPHA:95713 |