Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... |
ORPHA:1330 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Elevated circulating creatine kinase concentration |
OMIM:606768 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:601127 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ... |
ORPHA:3427 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... |
OMIM:614823 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis |
OMIM:220220 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615415 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... |
OMIM:193400 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:230800 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Failure to thrive, Bicuspid aortic valve |
OMIM:243310 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis |
ORPHA:75496 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial... |
OMIM:267010 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Failure to thrive, Obesity, Conotruncal defect, Abnormal cardiac septum mor... |
ORPHA:96147 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Subvalvular aortic stenosis |
OMIM:250951 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in infancy, Congesti... |
OMIM:601808 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... |
OMIM:614185 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
ORPHA:96170 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Conotrunc... |
ORPHA:2306 |
Trisomy 17P |
|
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart |
ORPHA:261290 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis |
ORPHA:459061 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Failure to thrive, Bicuspid aortic valve |
OMIM:617744 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... |
OMIM:618845 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenos... |
OMIM:208050 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... |
OMIM:614702 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Aortic valve stenosis, Mitral regurgitation |
OMIM:253010 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Failure to thrive |
OMIM:269920 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Supravalvular aortic stenosis |
OMIM:185500 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis |
ORPHA:2780 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Sneddon Syndrome |
|
Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke |
OMIM:182410 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Aortic valve steno... |
OMIM:613563 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... |
OMIM:208540 |
Anauxetic Dysplasia 1 |
|
Aortic valve stenosis |
OMIM:607095 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... |
ORPHA:2847 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Small for gestational age, Patent ductus arterio... |
ORPHA:464311 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve, Decreased body weight |
OMIM:300958 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... |
OMIM:608328 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... |
ORPHA:2414 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Small for gestational age, Patent ductus arterio... |
ORPHA:464306 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
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 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin... |
ORPHA:740 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Hepatosplenomegaly |
OMIM:618955 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Patent duct... |
OMIM:239850 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Mend Syndrome |
|
Aortic valve stenosis, Failure to thrive, Abnormal heart morphology |
ORPHA:401973 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Obesity, Atrial septal defect, Aortic valve ... |
ORPHA:96121 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary ven... |
ORPHA:1120 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Myhre Syndrome |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... |
OMIM:139210 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splenomegaly, Patent ductus arteriosus,... |
ORPHA:955 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Failure to thrive, Subvalvular aortic stenosis |
OMIM:619461 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Failur... |
ORPHA:99931 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Obesity, Subvalvular aortic stenosis |
OMIM:600430 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... |
ORPHA:555877 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse |
ORPHA:2396 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Small for g... |
ORPHA:268261 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve |
OMIM:619825 |
Mend Syndrome |
|
Aortic valve stenosis, Failure to thrive |
OMIM:300960 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis |
ORPHA:536471 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Patent ductus arteriosus, Bicuspid aortic valve, Abnormal left ventricular ... |
OMIM:132900 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... |
OMIM:609192 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Double outlet right ventricle,... |
OMIM:300166 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cachexia, Cardiomegaly |
ORPHA:42 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Failure to thrive, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis |
OMIM:217085 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension, Decreased body weight |
OMIM:602531 |
Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart |
ORPHA:2308 |
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 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:256550 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Okamoto Syndrome |
|
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... |
ORPHA:2729 |
Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis |
OMIM:618780 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Aortic valve calcification, Congestive heart failure, Mitral valve pr... |
ORPHA:79474 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... |
ORPHA:477817 |
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 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis, Hypoperista... |
OMIM:611376 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Weight l... |
ORPHA:465508 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Failure to thrive in infancy |
OMIM:618156 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... |
OMIM:610168 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Failure to thrive, Bicuspid aortic valve |
OMIM:616652 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal cardiac septum morphology, Hypoplast... |
ORPHA:709 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Failure to thrive, Subvalvular aortic ... |
ORPHA:65286 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Subvalvular aortic st... |
OMIM:614114 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly |
ORPHA:158687 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:349 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mi... |
OMIM:602782 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Patent ductus arteri... |
OMIM:610443 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Small for g... |
ORPHA:84064 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve mor... |
ORPHA:261552 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly |
OMIM:603903 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal heart mor... |
ORPHA:261537 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Obesity, Arrhythmia, Tetralogy of Fallot |
ORPHA:261494 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Abnormal cardiac sept... |
ORPHA:2152 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atrial septal defe... |
OMIM:300707 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... |
ORPHA:95430 |
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 |
Leopard Syndrome 1 |
|
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... |
OMIM:151100 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Double outlet right ventricle w... |
ORPHA:1596 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453499 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac... |
OMIM:608836 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight |
OMIM:608013 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Mitral valve prolapse |
OMIM:614816 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Small for gestational age, Secundum atrial septal defect, Patent ductus ar... |
OMIM:613355 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m... |
OMIM:252500 |
Robinow Syndrome |
|
Ventricular septal defect, Small for gestational age, Abnormal heart morphology, Pulmonic stenosi... |
ORPHA:97360 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Obesity, Aortic valve stenosis, Atrial septa... |
OMIM:601803 |
Ogden Syndrome |
|
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... |
OMIM:300855 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
OMIM:230000 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Hypovolemia, Subvalvular aortic stenosis |
ORPHA:47159 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim... |
ORPHA:508498 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestational age, Patent ductus ar... |
OMIM:619488 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Aortic valve atresia, Hypertens... |
OMIM:220111 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Aortic regurgitation, Subvalvular aortic stenosis |
ORPHA:1052 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Small for gestational age, Intraventricular hem... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Small for gestational age, Intraventricular hem... |
ORPHA:363958 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
OMIM:618278 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Large for gestational age, Transposition of the great ar... |
OMIM:280000 |
Bohring-Opitz Syndrome |
|
Severe failure to thrive, Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly |
ORPHA:97297 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation, Decreased body weight, At... |
OMIM:271640 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... |
ORPHA:581 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Abetalipoproteinemia |
|
Hepatomegaly, Failure to thrive, Congestive heart failure, Cardiomegaly |
ORPHA:14 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Small for gestational age, ... |
OMIM:612289 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... |
OMIM:154700 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Overweight, Congestive he... |
OMIM:619475 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity |
ORPHA:1772 |
Williams Syndrome |
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Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... |
ORPHA:904 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:352665 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Failure to thrive in infan... |
OMIM:194050 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Loeys-Dietz Syndrome 3 |
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Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Pat... |
OMIM:613795 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:438213 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Arrhythmia, Failure to thrive |
OMIM:256040 |
Aicardi-Goutières Syndrome |
|
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Cardiomegaly, P... |
ORPHA:51608 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... |
ORPHA:99226 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventricular septal defec... |
OMIM:619503 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Bicuspid aortic valve |
OMIM:218330 |
Wiedemann-Rautenstrauch Syndrome |
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Congenital malformation of the left heart, Pulmonic stenosis, Failure to thrive, Slender build, D... |
ORPHA:3455 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Obesity, Hypertrophic cardio... |
ORPHA:116 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Partial anomalous pulmonary venous return, Bicuspid aortic valve, Myocardial infarction, Right ve... |
OMIM:150230 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve |
OMIM:309800 |