Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... |
OMIM:231060 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
Scimitar Syndrome |
|
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... |
ORPHA:185 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... |
OMIM:617780 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly |
OMIM:604416 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... |
OMIM:614954 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... |
OMIM:612158 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly |
OMIM:209950 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Nemaline Myopathy 9 |
|
Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:615731 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... |
ORPHA:1354 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:618858 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:3304 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... |
ORPHA:3426 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... |
ORPHA:824 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... |
ORPHA:860 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... |
OMIM:614262 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... |
ORPHA:1461 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615996 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:606176 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus art... |
OMIM:616276 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... |
OMIM:306955 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... |
OMIM:270100 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect |
OMIM:616816 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... |
ORPHA:2299 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... |
ORPHA:244 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular sep... |
ORPHA:1166 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... |
OMIM:601005 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot |
OMIM:613630 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Thrombocytosis, Leukocytosis |
ORPHA:134 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
ORPHA:2209 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Arteria lusoria, Patent ductus ar... |
ORPHA:99050 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:1913 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot |
ORPHA:2184 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... |
ORPHA:401935 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Meacham Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... |
OMIM:608978 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Anemia, Thrombocytosis |
OMIM:226300 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... |
ORPHA:3384 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:243150 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... |
OMIM:618164 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Thrombocytosis, Lymphopenia |
OMIM:615934 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... |
ORPHA:3092 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... |
OMIM:190685 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot |
ORPHA:3033 |
Cardiomyopathy, Dilated, 2D |
|
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... |
OMIM:619371 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori... |
ORPHA:2326 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Thrombocytosis, Leukocytosis |
ORPHA:20 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... |
ORPHA:2847 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiplex congenita, Pul... |
OMIM:301056 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Type I diabetes mellitus, Thrombocytosis, Macrocytic anemia |
OMIM:212750 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
Poems Syndrome |
|
Thrombocytosis, Diabetes mellitus, Polycythemia |
ORPHA:2905 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... |
OMIM:607598 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Per... |
OMIM:617478 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... |
OMIM:613870 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy |
OMIM:249270 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... |
OMIM:601927 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... |
ORPHA:324636 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... |
ORPHA:99125 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... |
OMIM:212093 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thro... |
OMIM:615688 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... |
ORPHA:210122 |
Hepatocellular Carcinoma |
|
Anemia, Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Thrombocytopenia |
ORPHA:88673 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1926 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ... |
OMIM:615355 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
ORPHA:163956 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Cogan Syndrome |
|
Anemia, Thrombocytosis, Leukocytosis |
ORPHA:1467 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618142 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... |
OMIM:618223 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... |
ORPHA:1727 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... |
OMIM:601186 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardia, Complete atr... |
OMIM:264480 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... |
OMIM:301074 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:300963 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembranous ventricula... |
ORPHA:99095 |
Alagille Syndrome 2 |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis, Atrial septal defect |
OMIM:610205 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia |
OMIM:619995 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Aplasia of the abdomin... |
ORPHA:2970 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... |
ORPHA:397 |
Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... |
OMIM:618619 |
Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventricular septal defect, Type... |
OMIM:619542 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... |
ORPHA:3260 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries, Macroglossia |
OMIM:616789 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... |
ORPHA:251071 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect |
ORPHA:254534 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Ventricular septal defect |
OMIM:219730 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... |
ORPHA:1425 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:614261 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
ORPHA:290 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Skeleta... |
OMIM:603387 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Neuroleptic Malignant Syndrome |
|
Thrombocytopenia, Thrombocytosis, Leukocytosis |
ORPHA:94093 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... |
OMIM:606519 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume, Splenomegaly |
OMIM:222470 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
Syndromic Diarrhea |
|
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume |
ORPHA:84064 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
Contractural Arachnodactyly, Congenital |
|
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... |
OMIM:121050 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:600987 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Developmental And Epileptic Encephalopathy 66 |
|
Dextrocardia, Ventricular septal defect, Atrial septal defect |
OMIM:618067 |
Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum atrial sept... |
ORPHA:1329 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:500159 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... |
ORPHA:216694 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal coronary arte... |
ORPHA:488618 |
Brachydactyly, Type B1 |
|
Camptodactyly, Ventricular septal defect, Joint contracture of the hand |
OMIM:113000 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter... |
OMIM:600460 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Camptodactyly, Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect |
OMIM:617450 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Phaver Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch... |
ORPHA:2876 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Ventricular septal defec... |
ORPHA:363705 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
ORPHA:75389 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:619769 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal defect, Small hypothe... |
OMIM:612562 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect |
OMIM:614815 |
Distal Monosomy 15Q |
|
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... |
ORPHA:1596 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abno... |
OMIM:618494 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Dextrocardia, Transposition of the great arteries, Persistent left... |
OMIM:314390 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis |
ORPHA:85202 |
3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... |
ORPHA:7 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect, Facial palsy |
OMIM:147770 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, Ventricular septal defect, Elbow contracture, Contracture of the proxim... |
OMIM:617201 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Ventricular septal defect, Atrial septal defect, Congenital diap... |
ORPHA:1335 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame... |
OMIM:615474 |
Burn-Mckeown Syndrome |
|
Hypomimic face, Ventricular septal defect, Atrial septal defect |
OMIM:608572 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
Atrioventricular septal defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect |
OMIM:616651 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Transposition of the great arteries, Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:617877 |
Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Congenital diaphragmatic hernia, Ectopia cordis, Patent duct... |
OMIM:313850 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
Brucellosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:1304 |
Thakker-Donnai Syndrome |
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Congenital diaphragmatic hernia, Tetralogy of Fallot, Transposition of the great arteries, Ventri... |
ORPHA:1780 |
Sifrim-Hitz-Weiss Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... |
OMIM:617159 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect |
OMIM:617751 |
Transaldolase Deficiency |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:606003 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... |
ORPHA:329224 |
Microphthalmia, Syndromic 2 |
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Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... |
OMIM:300166 |
Kawasaki Disease |
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Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Myocarditis, Dou... |
ORPHA:2331 |
Acrocardiofacial Syndrome |
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Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Atrial s... |
ORPHA:2008 |
Cardiac-Urogenital Syndrome |
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Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Tetraamelia Syndrome 2 |
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Hypoplastic pulmonary veins, Ventricular septal defect |
OMIM:618021 |
Absence Of The Pulmonary Artery |
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Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morph... |
ORPHA:980 |
Emanuel Syndrome |
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Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Torticollis, Atrial sept... |
OMIM:609029 |
Braddock-Carey Syndrome 1 |
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Aortic valve prolapse, Camptodactyly, Ventricular septal defect |
OMIM:619980 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... |
OMIM:618748 |
Cat Eye Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:115470 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:1488 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... |
ORPHA:369891 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
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Ventricular septal defect |
OMIM:617635 |
Kagami-Ogata Syndrome |
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Patent ductus arteriosus, Diastasis recti, Flexion contracture, Ventricular septal defect, Atrial... |
OMIM:608149 |
15Q14 Microdeletion Syndrome |
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Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618870 |
Lethal Congenital Contracture Syndrome 10 |
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Increased variability in muscle fiber diameter, Ventricular septal defect, Torticollis, Macroglos... |
OMIM:617022 |
Nephrotic Syndrome, Type 11 |
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Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Noonan Syndrome 2 |
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Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Ventric... |
OMIM:605275 |
Pelger-Huet Anomaly |
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Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia |
OMIM:169400 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... |
ORPHA:2968 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... |
OMIM:253800 |
Suleiman-El-Hattab Syndrome |
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Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:618950 |
Noonan Syndrome 10 |
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Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... |
OMIM:616564 |
Acitretin/Etretinate Embryopathy |
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Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
ORPHA:2519 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Right ventricular hypertrophy, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:613404 |
Char Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... |
ORPHA:2255 |
Spondylo-Ocular Syndrome |
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Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:612582 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita, Atrial septa... |
OMIM:208085 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Coffin-Siris Syndrome 7 |
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Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
Viss Syndrome |
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Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Contracture of th... |
OMIM:619472 |
3P25.3 Microdeletion Syndrome |
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Knee flexion contracture, Patent ductus arteriosus, Ventricular septal defect, Atrial septal defe... |
ORPHA:435638 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Pulmonic stenosis, Ventricular septal defect |
OMIM:615508 |
Congenital Tracheomalacia |
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Patent ductus arteriosus, Ventricular septal defect, Single ventricle, Atrial septal defect, Doub... |
ORPHA:95430 |
Carpenter Syndrome 1 |
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Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Camptodactyly... |
OMIM:201000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... |
OMIM:265380 |
Meckel Syndrome, Type 4 |
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Ventricular septal defect, Atrial septal defect |
OMIM:611134 |
Holt-Oram Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Aplasia of the pectoralis major muscle, Secu... |
OMIM:142900 |
Seckel Syndrome 9 |
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Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... |
OMIM:616777 |
Heart And Brain Malformation Syndrome |
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Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Limb hypertonia |
OMIM:616920 |
Pontocerebellar Hypoplasia, Type 8 |
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Patent foramen ovale, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:614961 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Fanconi Anemia, Complementation Group N |
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Ventricular septal defect |
OMIM:610832 |
Insulin-Resistance Syndrome Type B |
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Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes melli... |
ORPHA:2298 |
Mckusick-Kaufman Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
ORPHA:2473 |
Orotic Aciduria |
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Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Beck-Fahrner Syndrome |
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Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Recombinant 8 Syndrome |
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Camptodactyly of finger, Patent ductus arteriosus, Ventricular septal defect, Atrial septal defec... |
ORPHA:96167 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Cardiofacioneurodevelopmental Syndrome |
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Pulmonic stenosis, Atrioventricular canal defect, Camptodactyly, Ventricular septal defect |
OMIM:619123 |
Velocardiofacial Syndrome |
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Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Ventricular septal defect |
OMIM:615630 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Aorti... |
ORPHA:96147 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Ventricular septal defect |
OMIM:616901 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:220500 |
Lymphedema-Distichiasis Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Ventricular septal defect |
OMIM:153400 |
Ververi-Brady Syndrome |
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Transposition of the great arteries |
OMIM:617982 |
Tatton-Brown-Rahman Syndrome |
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Ventricular septal defect, Atrial septal defect |
OMIM:615879 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|