Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615297 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:185 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia |
OMIM:604416 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... |
OMIM:618316 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... |
OMIM:220210 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... |
OMIM:614954 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Patent d... |
OMIM:179613 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... |
ORPHA:1354 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Histiocytosis |
OMIM:209950 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... |
OMIM:618901 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:618858 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... |
ORPHA:860 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Heme Oxygenase 1 Deficiency |
|
Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia, Asplenia |
OMIM:614034 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger |
ORPHA:1388 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:228940 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... |
ORPHA:261183 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2476 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Hadziselimovic Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Hypertelorism And Tetralogy Of Fallot |
|
Tetralogy of Fallot with absent pulmonary valve, Tetralogy of Fallot, Patent ductus arteriosus, P... |
OMIM:239711 |
Primary Ciliary Dyskinesia |
|
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... |
ORPHA:244 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... |
OMIM:270100 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy... |
ORPHA:1166 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... |
OMIM:613426 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... |
ORPHA:2209 |
Fetal Trimethadione Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus |
OMIM:614886 |
Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... |
OMIM:612561 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... |
ORPHA:371428 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... |
ORPHA:401935 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect |
OMIM:616901 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:3384 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:618624 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:619189 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect |
OMIM:207620 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Double outlet right ventricle, Pulmonary artery hypoplasia, Right aortic ... |
ORPHA:2326 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... |
OMIM:608978 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... |
ORPHA:3092 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... |
OMIM:619371 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... |
ORPHA:2847 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot |
ORPHA:3033 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... |
ORPHA:3097 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618974 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia |
ORPHA:20 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus |
ORPHA:2516 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Atrial septal defect, Contractures of the interphalangeal joint of the... |
OMIM:613870 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Arthrogryposis multiplex congenita, Pul... |
OMIM:301056 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Diabetes mellitus |
ORPHA:2905 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet a... |
ORPHA:324636 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... |
OMIM:601927 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Thrombocytosis, Type I diabetes mellitus, Macrocytic anemia |
OMIM:212750 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... |
OMIM:617478 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... |
ORPHA:99125 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:3449 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... |
ORPHA:210122 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:615688 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta |
OMIM:600987 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot |
OMIM:600123 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... |
ORPHA:392 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Varicose veins, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:153400 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:615355 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
OMIM:249270 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic l... |
OMIM:301043 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... |
ORPHA:1727 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... |
OMIM:248950 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, M... |
ORPHA:163956 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... |
ORPHA:284169 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:608406 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:601186 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hypoglycemia, Type II diabetes mellitus, Polycythemia, Anemia, Thrombocytopenia |
ORPHA:88673 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:613398 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Knee flexion contracture, Atri... |
OMIM:603387 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Camptodactyly |
OMIM:616145 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture |
OMIM:147800 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618142 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Camptodactyly |
OMIM:300963 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... |
OMIM:618619 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2328 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis |
OMIM:610205 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal def... |
ORPHA:488618 |
Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
Cardiac-Urogenital Syndrome |
|
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, At... |
OMIM:618280 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries |
OMIM:314390 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:290 |
Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:614261 |
Congenital Gerbode Defect |
|
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... |
ORPHA:99095 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Diastasis recti |
ORPHA:254534 |
Desbuquois Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... |
ORPHA:1425 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, A... |
ORPHA:2970 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:600001 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Congenita... |
ORPHA:251071 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
King-Denborough Syndrome |
|
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... |
OMIM:619542 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... |
ORPHA:397 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... |
OMIM:249420 |
Phace Association |
|
Ventricular septal defect, Coarctation of aorta, Anomalous branches of internal carotid artery, P... |
OMIM:606519 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:613680 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
ORPHA:3306 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:613404 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:218350 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypomimic face |
OMIM:608572 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Ventricular septal defect |
OMIM:617164 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Joint contracture of the hand, Camptodactyly |
OMIM:113000 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, A... |
OMIM:600460 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia |
ORPHA:84064 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:617360 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:613457 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Congenital muscular torticollis |
ORPHA:2345 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... |
OMIM:609029 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Arthrogryposis mu... |
OMIM:208085 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Distal arthrogryposis, Mitral valve prolapse, H... |
OMIM:121050 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... |
ORPHA:500159 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
ORPHA:75389 |
Phaver Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Camptodactyly of finger, Pulmonary artery atresi... |
ORPHA:2876 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... |
ORPHA:7 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Secundum atrial septal ... |
OMIM:612562 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Transposition of the great arteries, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:617877 |
Johnson Neuroectodermal Syndrome |
|
Right aortic arch, Ventricular septal defect, Facial palsy, Patent ductus arteriosus |
OMIM:147770 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Displacement of the papillar... |
ORPHA:1329 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... |
ORPHA:216694 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:301039 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect, Tetralogy of Fa... |
ORPHA:1335 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:145420 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia |
ORPHA:1908 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Atrioventricular Septal Defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Roifman Syndrome |
|
Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy |
OMIM:616651 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:452 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Coarctation of aorta |
OMIM:617159 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Coarctation... |
ORPHA:363705 |
Transaldolase Deficiency |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, ... |
OMIM:606003 |
Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Congenital d... |
ORPHA:1780 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior vena cava, Peric... |
OMIM:618775 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615102 |
Distal Monosomy 15Q |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Mitral atresia, Congenital diaphragmatic ... |
ORPHA:1596 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia, Patent ductus arteriosus |
OMIM:612938 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Atrial sept... |
ORPHA:2008 |
Down Syndrome |
|
Macroglossia, Complete atrioventricular canal defect |
OMIM:190685 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
ORPHA:1304 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Thoracoabdominal Syndrome |
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Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, Congenital diaphra... |
OMIM:313850 |
Meier-Gorlin Syndrome 7 |
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Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:617063 |
Nephrotic Syndrome, Type 11 |
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Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Cooper-Jabs Syndrome |
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Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1488 |
Kagami-Ogata Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Diastasis recti, Atrial s... |
OMIM:608149 |
Microphthalmia, Syndromic 2 |
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Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Co... |
OMIM:300166 |
Noonan Syndrome 2 |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Abnormal c... |
OMIM:605275 |
Absence Of The Pulmonary Artery |
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Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Abnormal corona... |
ORPHA:980 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:2519 |
Spondylo-Ocular Syndrome |
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Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Thrombocytosis, Hypochromic anemia |
OMIM:618213 |
Noonan Syndrome 10 |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Coarctation of aor... |
OMIM:616564 |
Pelger-Huet Anomaly |
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Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia |
OMIM:169400 |
3P25.3 Microdeletion Syndrome |
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Ventricular septal defect, Skeletal muscle atrophy, Patent ductus arteriosus, Pulmonic stenosis, ... |
ORPHA:435638 |
Van Esch-O'Driscoll Syndrome |
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Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Pulmonary valve atresia |
OMIM:301030 |
Kawasaki Disease |
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Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... |
ORPHA:2331 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Interrupted aortic arch, Ventricular septal defect, Hypoplasia of right ventricle, Congenital dia... |
ORPHA:2255 |
Stankiewicz-Isidor Syndrome |
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Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus |
OMIM:617516 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Ventricular septal defect |
OMIM:243150 |
Leukocyte Adhesion Deficiency |
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Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... |
ORPHA:2968 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Scapular winging, Pate... |
OMIM:618870 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Patent foramen... |
ORPHA:369891 |
Char Syndrome |
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Ventricular septal defect, Patent ductus arteriosus |
ORPHA:46627 |
Holt-Oram Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Small thenar eminenc... |
OMIM:142900 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Atrial septal d... |
OMIM:617602 |
Seckel Syndrome 9 |
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Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Pulmonary arter... |
OMIM:616777 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Ventricular septal defect, Pulmonic stenosis |
OMIM:615508 |
Acitretin/Etretinate Embryopathy |
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Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Fanconi Anemia, Complementation Group N |
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Ventricular septal defect |
OMIM:610832 |
Viss Syndrome |
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Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... |
OMIM:619472 |
Cardiofacioneurodevelopmental Syndrome |
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Atrioventricular canal defect, Ventricular septal defect, Camptodactyly, Pulmonic stenosis |
OMIM:619123 |
Meckel Syndrome, Type 4 |
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Ventricular septal defect, Atrial septal defect |
OMIM:611134 |
Sotos Syndrome |
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Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:117550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonic stenosis, Congenital muscular dystrophy... |
OMIM:253800 |
Suleiman-El-Hattab Syndrome |
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Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
Carpenter Syndrome 1 |
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Ventricular septal defect, Joint contracture of the hand, Patent ductus arteriosus, Pulmonic sten... |
OMIM:201000 |
Orotic Aciduria |
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Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Insulin-Resistance Syndrome Type B |
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Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Insulin-resistan... |
ORPHA:2298 |
Beck-Fahrner Syndrome |
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Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mckusick-Kaufman Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, H... |
ORPHA:2473 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
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Ventricular septal defect, Patent ductus arteriosus |
ORPHA:52055 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
OMIM:612582 |
Emanuel Syndrome |
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Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... |
ORPHA:96170 |
Trisomy 13 |
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Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:3378 |
Diamond-Blackfan Anemia 10 |
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Congenital diaphragmatic hernia, Ventricular septal defect, Patent ductus arteriosus |
OMIM:613309 |
Recombinant 8 Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, C... |
ORPHA:96167 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Ventricular septal defect |
OMIM:615630 |
Encephalocraniocutaneous Lipomatosis |
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Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalignment of the ... |
OMIM:265380 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Ventricular septal defect, Patent ductus arteriosus |
ORPHA:77298 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Joint contracture of the hand, Patent ductus arteriosus, Atrial septal... |
OMIM:244300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Ventricular septal defect, Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contra... |
OMIM:309520 |
Velocardiofacial Syndrome |
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Interrupted aortic arch, Ventricular septal defect, Right aortic arch with mirror image branching... |
OMIM:192430 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Pulmonary artery stenosis, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:611812 |
Congenital Tracheomalacia |
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Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Patent duct... |
ORPHA:95430 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Ventricular septal defect, Contractures of the large joints |
ORPHA:3078 |
Costello Syndrome |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulm... |
ORPHA:3071 |
Congenital Disorder Of Glycosylation, Type Iil |
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Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614576 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Conotruncal defect, Macroglossia, Coarctation of aorta, Tetralogy of Fallot, Abnormal cardiac sep... |
ORPHA:96147 |
Ververi-Brady Syndrome |
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Transposition of the great arteries |
OMIM:617982 |
Heart And Brain Malformation Syndrome |
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Interrupted aortic arch, Ventricular septal defect, Camptodactyly of finger |
OMIM:616920 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ventricular septal defect, Flexion contracture |
ORPHA:79243 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Ventricular septal defect |
OMIM:617895 |
Fanconi Anemia, Complementation Group I |
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Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:609053 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture |
OMIM:616897 |
Codas Syndrome |
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Ventricular septal defect |
ORPHA:1458 |
Ogden Syndrome |
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Pulmonary artery stenosis, Ventricular septal defect, Torticollis |
ORPHA:276432 |
Galloway-Mowat Syndrome 7 |
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Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Dysosteosclerosis |
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Ventricular septal defect |
ORPHA:1782 |