Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S... |
ORPHA:1937 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:270460 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature |
ORPHA:2515 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... |
OMIM:616276 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation, Tetralogy of Fallot |
ORPHA:3303 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... |
OMIM:249670 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, ... |
OMIM:179613 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... |
ORPHA:1354 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu... |
ORPHA:3426 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
OMIM:614326 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Short stature |
ORPHA:391646 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Short stature, Thoracic aortic aneurysm, Patent ductus a... |
OMIM:619657 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short stature, Anomalous origin of left coronary artery from the pulmonary ... |
ORPHA:2326 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... |
ORPHA:1913 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... |
ORPHA:49827 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:1388 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr... |
ORPHA:1923 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Short stature, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pul... |
OMIM:301056 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion... |
ORPHA:2772 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Nathalie Syndrome |
|
Growth delay, Abnormal EKG |
OMIM:255990 |
Weill-Marchesani Syndrome |
|
Short stature, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Aortic valve s... |
ORPHA:3449 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept... |
ORPHA:2516 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Atrial septal defect, Tetralog... |
OMIM:612946 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:618330 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Patent ductus arteriosus, Growth delay, Atrial septal defect, Double outlet right ... |
OMIM:614886 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:619189 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... |
ORPHA:1329 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
Tyshchenko Syndrome |
|
Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect... |
OMIM:615102 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial ... |
OMIM:249270 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Short stature, Abnormal aortic morphology |
ORPHA:1166 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Filippi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Pleural effus... |
OMIM:615355 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec... |
OMIM:618142 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Warsaw Breakage Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular s... |
OMIM:613398 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut... |
ORPHA:290 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Wolcott-Rallison Syndrome |
|
Short stature, Dehydration, Growth delay, Atrial septal defect, Double outlet right ventricle, As... |
ORPHA:1667 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614815 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:615279 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
ORPHA:3369 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal... |
ORPHA:254534 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Meningocele, Ane... |
ORPHA:1908 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Atrial septal defect, Intrau... |
ORPHA:75389 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypopla... |
OMIM:601186 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Short stature, Postnatal growth retardat... |
OMIM:616651 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Patent ductus arteriosus, Pulmonary artery stenosis, Growth delay, Hypertrophic ca... |
ORPHA:251071 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Ventricular septal defect, Short stature, Coarctation of aorta |
OMIM:620210 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten... |
ORPHA:2306 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect, Intraut... |
OMIM:611134 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Short stature |
OMIM:314320 |
Down Syndrome |
|
Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Patent ductus a... |
OMIM:190685 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retar... |
OMIM:615583 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... |
OMIM:606003 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Short stature, Double outlet right ventricle with doubly c... |
ORPHA:1596 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect |
OMIM:613870 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... |
ORPHA:330001 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:607598 |
Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Serkal Syndrome |
|
Growth delay, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Increased nuch... |
OMIM:615668 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Int... |
OMIM:617751 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Intra... |
OMIM:616897 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... |
ORPHA:397 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet... |
ORPHA:163956 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension |
OMIM:616589 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopath... |
OMIM:612938 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Filippi Syndrome |
|
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... |
ORPHA:3255 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Pulmonary artery hypoplasia, Atrial sep... |
OMIM:616777 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
OMIM:600001 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG |
ORPHA:1177 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Intrauterine growth r... |
OMIM:617022 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short stature, Paroxysmal supraventricular tachycardia, Perimembranous ventricular septal defect,... |
OMIM:617877 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect |
OMIM:619908 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Short stature |
ORPHA:85202 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outlet r... |
OMIM:618223 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ... |
ORPHA:2847 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Disproportionate short-limb short stature |
ORPHA:1425 |
Ververi-Brady Syndrome |
|
Intrauterine growth retardation, Short stature, Transposition of the great arteries |
OMIM:617982 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Short stature, Rhizomelia, Coarctation of aorta,... |
OMIM:614114 |
Diabetic Embryopathy |
|
Ventricular septal defect, Spinal dysraphism, Abnormal aortic morphology, Transposition of the gr... |
ORPHA:1926 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature |
OMIM:609654 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Intrauter... |
ORPHA:2008 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:620113 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, At... |
OMIM:249420 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Growth delay, Atrial septal d... |
OMIM:614576 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Secundum atrial septal defect, Coarctation of aorta, Pe... |
OMIM:600987 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect |
ORPHA:93267 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Pulmonary artery stenosis, Ventricular septal defect, Oligohydra... |
OMIM:611812 |
Transketolase Deficiency |
|
Ventricular septal defect, Proportionate short stature, Abnormal coronary artery course, Patent d... |
ORPHA:488618 |
19P13.3 Microduplication Syndrome |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hype... |
ORPHA:447980 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature |
OMIM:617450 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:617452 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... |
ORPHA:494344 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Short stature, Heart murmur, Abnormal vena cava morphology, Intrauteri... |
ORPHA:166035 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Short stature |
OMIM:612528 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... |
ORPHA:2331 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Postnatal growth reta... |
ORPHA:7 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:218350 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Ventricular septal defect, Short stature, Patent ductus arteriosus, Incr... |
OMIM:618870 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries |
OMIM:619995 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... |
OMIM:618494 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nu... |
OMIM:616564 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:79243 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Atrial septal defec... |
OMIM:270450 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra... |
ORPHA:3378 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:609053 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Short stature, Patent foramen o... |
OMIM:618027 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intraute... |
OMIM:300514 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr... |
ORPHA:254346 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul... |
OMIM:314390 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... |
ORPHA:85443 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature |
ORPHA:505237 |
Alagille Syndrome |
|
Ventricular septal defect, Telangiectasia of the skin, Hypertension, Delayed puberty, Atrial sept... |
ORPHA:52 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Atrial septal defect, Patent foramen ovale, Right ventr... |
OMIM:614261 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... |
OMIM:280000 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... |
OMIM:615879 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Polyh... |
OMIM:605275 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
OMIM:608572 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O... |
ORPHA:2970 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Short Stature-Micrognathia Syndrome |
|
Intrauterine growth retardation, Rhizomelia, Ventricular septal defect, Short stature |
OMIM:617164 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Short stature, Growth delay, Coronary artery fistula, Ab... |
OMIM:614294 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Short stature, Edema |
OMIM:618348 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Cat Eye Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Total... |
OMIM:115470 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Short stature, Congestive heart failur... |
OMIM:601808 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Dilate... |
OMIM:614921 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:261190 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... |
OMIM:265380 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect, Short stature |
ORPHA:1488 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Ogden Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Pulmonary artery stenosis, Cardiogenic s... |
ORPHA:276432 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
OMIM:244300 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Growth delay, Pulmonic s... |
ORPHA:96170 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Umbilical hernia, Patent for... |
ORPHA:369891 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:96191 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Braddock-Carey Syndrome 1 |
|
Growth delay, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm |
OMIM:301039 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:619542 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Edema, Telangiectasia, Abnormal heart morphology, Umbilical hernia, Cherry red spot... |
ORPHA:93400 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature |
ORPHA:85194 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Growth delay, Hypertension, Bradycard... |
OMIM:614653 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Mild short stature, Ventricular septal defect |
OMIM:169400 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Short stature, Patent ductus arteriosus, Hypoplastic aor... |
OMIM:300166 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili... |
OMIM:612582 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
19Q13.11 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:217346 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra... |
ORPHA:99776 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Atrial ... |
OMIM:617159 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Short stature, Coarctation of aorta, Aortic root aneurysm, Atrial sept... |
OMIM:617602 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C... |
ORPHA:1708 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Short stature, Polyhydramnios, Pulmo... |
OMIM:300998 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect, Short stature |
ORPHA:1770 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Growth delay, Abnormal cardiac se... |
ORPHA:96147 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Intrauterine grow... |
OMIM:617360 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Tetralogy of Fallot, Transpos... |
OMIM:201000 |
Noonan Syndrome 4 |
|
Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect... |
OMIM:610733 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature |
OMIM:615630 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Growth delay, Intracranial hemorrhage, Hyp... |
OMIM:614424 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Nonim... |
OMIM:235510 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Short stature |
OMIM:616901 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aort... |
OMIM:600460 |
Heart And Brain Malformation Syndrome |
|
Growth delay, Polyhydramnios, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Ventricular septal defect |
OMIM:610832 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios |
OMIM:243150 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
ORPHA:457193 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Short stature, Ventricular septal defect, Shortened PR interval, ... |
OMIM:614947 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Costello Syndrome |
|
Short stature, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:3071 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Syndromic Diarrhea |
|
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent duc... |
ORPHA:84064 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Atrial se... |
ORPHA:1335 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature |
OMIM:618325 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Interrupted aortic arch, Pulmonary artery atresia, Umbi... |
OMIM:192430 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
ORPHA:52055 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:608149 |
Codas Syndrome |
|
Ventricular septal defect, Short stature |
ORPHA:1458 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Kury-Isidor Syndrome |
|
Growth delay, Ventricular septal defect |
OMIM:619762 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Ventricular septal defect |
ORPHA:3078 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Pulmonary arte... |
OMIM:300963 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence... |
ORPHA:1393 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Patent foramen ova... |
OMIM:208085 |
Dysosteosclerosis |
|
Ventricular septal defect, Short stature |
ORPHA:1782 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... |
ORPHA:261330 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Short stature |
OMIM:145420 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteriosus, Pulmonic sten... |
OMIM:614609 |
Myopathy With Extrapyramidal Signs |
|
Growth delay, Ventricular septal defect |
OMIM:615673 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Postn... |
OMIM:214800 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Short stature, Congestive heart failure, Patent ductus arteriosus, Hyd... |
ORPHA:354 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Anencephaly, Neonatal... |
OMIM:269860 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Mitral valve ... |
OMIM:609942 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus ... |
OMIM:617506 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Aortic... |
OMIM:610443 |
De Barsy Syndrome |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
ORPHA:2962 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Interrupted aortic arch, Atri... |
OMIM:300712 |
Trisomy 1Q |
|
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu... |
ORPHA:261344 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:277600 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Atria... |
ORPHA:2473 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Patent ductus arteriosus, Mitral valve pr... |
OMIM:602782 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... |
OMIM:264480 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Mesomelic/rhizomelic limb shortening, A... |
OMIM:605039 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, Ascending aorta hy... |
OMIM:619503 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Pulmonary valve atresia, Gro... |
OMIM:301030 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Growth delay, Aortic root aneurysm, Mitral sten... |
ORPHA:96201 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Large placenta, P... |
OMIM:222470 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper... |
OMIM:100300 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronary artery fistula, Neon... |
OMIM:620024 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Pulmonary artery stenosis, Coarc... |
ORPHA:261494 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mening... |
OMIM:130720 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Pancreatic lymph... |
OMIM:235255 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:300472 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Short stature |
OMIM:610536 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Ventricular septal defect |
OMIM:234050 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Short stature |
ORPHA:96097 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Abnormal heart... |
ORPHA:1465 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Ventricular septal defect, Short stature |
OMIM:615503 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:613309 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
Cohen Syndrome |
|
Ventricular septal defect, Short stature, Mitral valve prolapse, Delayed puberty, Intrauterine gr... |
ORPHA:193 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Birth ... |
ORPHA:464311 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Proportionate short stature, Postnatal growth retardation, Patent duct... |
ORPHA:79345 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Junctional ectopic tachycardia, Atria... |
OMIM:309801 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Ventricular septal defect, Proportionate short stature, Congestive heart failure, ... |
OMIM:608328 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Short stature, Cardiomyopathy, Severe postnatal growth retardation, At... |
ORPHA:769 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Pancreatic lymphangiecta... |
ORPHA:1655 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac septum morphology, Atria... |
ORPHA:209905 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Short stature, Growth delay, Mitral regurgitation, Aortic root aneurys... |
OMIM:615582 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... |
OMIM:123700 |
Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Atrial septal ... |
ORPHA:3380 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh... |
OMIM:256520 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Anomalous pulmonary venous re... |
OMIM:616368 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Mitral ... |
ORPHA:444072 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Oligohydramnios |
OMIM:619229 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short stature, Paten... |
OMIM:616894 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Short stature, Bicuspid aortic valve, Patent ductus arteriosus, Pulmon... |
OMIM:610759 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:612530 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ... |
OMIM:614866 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:211750 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Preductal coarctation of the ... |
OMIM:146510 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect |
OMIM:616449 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Gr... |
OMIM:617063 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:227645 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Coarcta... |
OMIM:139210 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... |
OMIM:192350 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Growth delay, Intrauterine growth retardatio... |
ORPHA:506 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... |
ORPHA:508498 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:261236 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... |
OMIM:117550 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Coarctat... |
OMIM:616145 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Postnatal growth retardation, Patent duct... |
OMIM:257920 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Short stature, Patent ductus arteriosus, Intraut... |
ORPHA:464306 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios |
ORPHA:436252 |
Zellweger Syndrome |
|
Ventricular septal defect, Short stature |
ORPHA:912 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Ventricular septal defect, Short stature, Delayed puberty |
ORPHA:3138 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Atrial septal defect, Short stature, Spina bifid... |
ORPHA:567 |
Larsen Syndrome |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:150250 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Pe... |
ORPHA:2745 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... |
ORPHA:141127 |
Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal a... |
ORPHA:2461 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Mitral valve prolapse |
OMIM:616202 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Heart murmur, Intracranial he... |
ORPHA:163979 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
OMIM:222448 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Pulmona... |
OMIM:618454 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Postnatal growth retardation, Growth delay, Perimembranous ventricular... |
OMIM:301040 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Growth delay, P... |
OMIM:613457 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
OMIM:212066 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Doors Syndrome |
|
Double outlet right ventricle, Spina bifida occulta, Polyhydramnios, Sirenomelia |
ORPHA:79500 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Ventricular septal defect |
OMIM:617798 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Interrupted inferior vena cava with azy... |
OMIM:618846 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis... |
OMIM:607721 |
Alg9-Cdg |
|
Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fet... |
ORPHA:79328 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Short stature |
OMIM:250410 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, P... |
ORPHA:1692 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Opitz Gbbb Syndrome |
|
Growth delay, Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
Codas Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Atrioventricular ... |
OMIM:600373 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Short stature |
OMIM:178110 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Coarctation of aorta, Growth delay, Hypop... |
ORPHA:2308 |
Jacobsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:147791 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... |
ORPHA:508488 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win... |
OMIM:620025 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Short stature, Spina bifida, Edema of the... |
OMIM:274000 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... |
ORPHA:1519 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Short stature |
OMIM:272950 |
Trichothiodystrophy |
|
Umbilical hernia, Ventricular septal defect, Cardiomyopathy, Intrauterine growth retardation |
ORPHA:33364 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo... |
OMIM:608670 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature, Coarctation of aorta |
OMIM:244450 |
Hardikar Syndrome |
|
Ventricular septal defect, Short stature, Portal hypertension, Hematemesis, Patent ductus arterio... |
OMIM:301068 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Postnatal growth retardation, Ventricular septal defect |
ORPHA:251028 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Ab... |
ORPHA:2092 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Short stature |
OMIM:619575 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Short stature, Coronary sinus enlargement, Pulmonary artery sling, Per... |
OMIM:619268 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... |
ORPHA:1507 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Intrauterine growth retardati... |
OMIM:616975 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Left superior v... |
ORPHA:464738 |
Robinow Syndrome |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Coarctation of aorta, Pulmon... |
ORPHA:97360 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Disproportionate short stature, Co... |
OMIM:210710 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta |
ORPHA:268249 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Growth... |
ORPHA:3047 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
ORPHA:96121 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Atrial septal... |
OMIM:300373 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope |
ORPHA:230 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth ... |
OMIM:617140 |
Restrictive Dermopathy |
|
Dextrocardia, Polyhydramnios, Large placenta, Patent ductus arteriosus, Ascending tubular aorta a... |
ORPHA:1662 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... |
OMIM:236680 |
Holoprosencephaly |
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Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,... |
ORPHA:2162 |
Hand-Foot-Genital Syndrome |
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Ventricular septal defect |
ORPHA:2438 |
Duane-Radial Ray Syndrome |
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Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation |
OMIM:607323 |
3Q29 Microduplication Syndrome |
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Ventricular septal defect |
ORPHA:251038 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat... |
ORPHA:3472 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Marshall-Smith Syndrome |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Premature ventricular contrac... |
OMIM:602535 |
Esophageal Atresia |
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Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Tetralogy of Fallot |
ORPHA:1199 |
Noonan Syndrome 1 |
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Short stature, Ventricular septal defect, Lymphedema, Postnatal growth retardation, Patent ductus... |
OMIM:163950 |
Smith-Lemli-Opitz Syndrome |
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Ventricular septal defect, Short stature, Rhizomelia, Polyhydramnios, Patent ductus arteriosus, I... |
ORPHA:818 |
2Q31.1 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Short stature |
ORPHA:251014 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Short statu... |
ORPHA:268261 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Growth delay, Atrial septal... |
OMIM:301044 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Microphthalmia, Syndromic 3 |
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Postnatal growth retardation, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:206900 |
Oculodentodigital Dysplasia |
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Umbilical hernia, Arrhythmia, Ventricular septal defect |
ORPHA:2710 |
Omodysplasia 1 |
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Rhizomelia, Ventricular septal defect, Pulmonary artery stenosis, Disproportionate short-limb sho... |
OMIM:258315 |
Chime Syndrome |
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Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Goldberg-Shprintzen Syndrome |
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Aortic regurgitation, Ventricular septal defect |
OMIM:609460 |
Cornelia De Lange Syndrome 1 |
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Intrauterine growth retardation, Ventricular septal defect, Short stature |
OMIM:122470 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ... |
ORPHA:353281 |
Williams Syndrome |
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Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Tbck-Related Intellectual Disability Syndrome |
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Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:488632 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... |
ORPHA:2369 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ... |
ORPHA:353277 |
Arboleda-Tham Syndrome |
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Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper eyelid ... |
OMIM:616268 |
Cardiospondylocarpofacial Syndrome |
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Ventricular septal defect, Short stature, Muscular ventricular septal defect, Dysplastic tricuspi... |
OMIM:157800 |
Rubinstein-Taybi Syndrome 1 |
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Ventricular septal defect, Short stature, Spina bifida, Polyhydramnios, Postnatal growth retardat... |
OMIM:180849 |
Feingold Syndrome 1 |
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Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... |
OMIM:164280 |
Liver Disease, Severe Congenital |
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Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of ... |
OMIM:619991 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Ventricular septal defect, Short stature, Congestive heart failure, Patent ductus arteriosus, Abn... |
ORPHA:444077 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:214100 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Patent du... |
ORPHA:261337 |
Hajdu-Cheney Syndrome |
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Mitral stenosis, Short stature, Ventricular septal defect, Patent ductus arteriosus, Delayed pube... |
ORPHA:955 |
Apert Syndrome |
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Rhizomelic arm shortening, Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int... |
ORPHA:363958 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Ventricular septal defect |
OMIM:619306 |
Trichohepatoneurodevelopmental Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Polyhydramnios |
OMIM:618268 |
Chromosome 13Q14 Deletion Syndrome |
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Growth delay, Umbilical hernia, Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Costello Syndrome |
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Ventricular septal defect, Short stature, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi... |
OMIM:218040 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Ventricular septal defect, Short stature, Polyhydramnios, Postnatal growth retardation, Large pla... |
ORPHA:96334 |
Smith-Lemli-Opitz Syndrome |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Growth ... |
OMIM:270400 |
Degcags Syndrome |
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Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Persistent left... |
OMIM:619488 |
Simpson-Golabi-Behmel Syndrome |
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Prolonged QT interval, Bundle branch block, Ventricular septal defect, Polyhydramnios, Cardiomyop... |
ORPHA:373 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Mitra... |
ORPHA:363700 |
Okamoto Syndrome |
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Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Thauvin-Robinet-Faivre Syndrome |
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Varicose veins, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Short stature, Portal hypertension, Retinal art... |
OMIM:194050 |
Hajdu-Cheney Syndrome |
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Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:102500 |
Acrofacial Dysostosis 1, Nager Type |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short stature |
OMIM:154400 |
Cerebrocostomandibular Syndrome |
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Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Patent ductus arteriosus... |
OMIM:117650 |
Friedreich Ataxia 2 |
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Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Pulmonary artery... |
ORPHA:459070 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, Congesti... |
OMIM:619475 |
Alagille Syndrome 1 |
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Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... |
OMIM:118450 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation, Atr... |
OMIM:271640 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Growth delay, Ventricular septal defect |
OMIM:619418 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Short stature, Situs inversus totalis, Atrial septal defect, Tetralogy... |
OMIM:309500 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Short stature, Portal hypertension, Situs inversus totalis, Dilated ca... |
OMIM:243800 |
Fryns Syndrome |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Chylothorax, Atrial septal defect |
OMIM:229850 |
Keutel Syndrome |
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Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... |
OMIM:245150 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:135900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Short stature, Anomalous origin of left subclav... |
ORPHA:438213 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Short stature, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Short stature |
OMIM:619727 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d... |
OMIM:619522 |
Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Short stature, Growth delay, Severe postnatal growth retardation, Atri... |
OMIM:194190 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Rhizomelia, Polyhydramnios, Postnatal growth retardation, Patent ductu... |
OMIM:261540 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transpos... |
OMIM:614976 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Digeorge Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Interrupted aortic arch, Umbi... |
OMIM:188400 |
Mowat-Wilson Syndrome |
|
Short stature, Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmo... |
OMIM:235730 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:259770 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Short stature, Increased nuchal translucency, Severe postnatal growth ... |
ORPHA:199 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Oligohydramnios, Coarctation ... |
ORPHA:672 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Cardiomyopathy, Total anomal... |
OMIM:312870 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Patent ductus arteriosus... |
OMIM:268300 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Coarctation of aorta, Gro... |
OMIM:147920 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Second degree atri... |
ORPHA:3385 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Ventricular septal defect, Delayed puberty |
OMIM:181450 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Growth delay, Cardiomyo... |
OMIM:216340 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Coffin-Siris Syndrome 12 |
|
Heart murmur, Tetralogy of Fallot, Patent foramen ovale, Short stature |
OMIM:619325 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Umbilical hernia, Ventricular septal defect |
OMIM:620330 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stat... |
ORPHA:261552 |
Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Abnormal heart morphology, Atri... |
ORPHA:821 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Polyhydramnios, Mesomelic/rhi... |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... |
OMIM:164210 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
OMIM:606170 |