| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... |
OMIM:613854 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Chronic rhinitis, De... |
OMIM:611884 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:617205 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Mesocardia, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Double outlet right ven... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... |
OMIM:615482 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... |
OMIM:618300 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis |
OMIM:601322 |
| Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurre... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... |
OMIM:615451 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Dextrocardia, ... |
OMIM:615067 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... |
OMIM:606217 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Nephronophthisis 14 |
|
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia |
OMIM:614844 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... |
OMIM:615504 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... |
OMIM:613751 |
| Ventricular Septal Defect 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614429 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusi... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Dextrocardia, Double outlet right ventricle, Bronchiectasis, Cough,... |
OMIM:618254 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... |
OMIM:615505 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect |
OMIM:607941 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Cough, Dextrocardia, Situs inversus totalis, Abdominal situs invers... |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Asthma, Dextroc... |
OMIM:616037 |
| Tricuspid Atresia |
|
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 26 |
|
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615500 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
| Ciliary Dyskinesia, Primary, 16 |
|
Chronic rhinitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Abnormal ciliary mo... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 17 |
|
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recur... |
OMIM:614679 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... |
OMIM:615779 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... |
OMIM:616749 |
| Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... |
OMIM:613193 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Nephronophthisis 16 |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Polycyst... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs inversus totalis, Bronchi... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 22 |
|
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Chronic bronchitis, Heterotaxy, Cough, Situs inversus totalis, Bronchiectasi... |
OMIM:613807 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... |
OMIM:217095 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic ... |
OMIM:185500 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... |
OMIM:606763 |
| Pulmonic Stenosis And Deafness |
|
Pulmonic stenosis, Ventricular hypertrophy |
OMIM:178651 |
| Ciliary Dyskinesia, Primary, 10 |
|
Recurrent sinusitis, Ciliary dyskinesia, Situs inversus totalis, Chronic sinusitis |
OMIM:612518 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Ciliary Dyskinesia, Primary, 19 |
|
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 38 |
|
Cough, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Neonatal respiratory distr... |
OMIM:618063 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Dextrocardia, Rhinorrhea, Situs inversus totalis, Bronchiectasis, Right aortic ... |
OMIM:617577 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... |
ORPHA:860 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... |
OMIM:618780 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... |
OMIM:619702 |
| Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... |
ORPHA:3384 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:613095 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... |
OMIM:306955 |
| Laterality Defects, Autosomal Dominant |
|
Heterotaxy, Asplenia, Situs inversus totalis |
OMIM:601086 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Chronic bronchitis, Cough, Situs inversus totalis, Bronchiectasis, Ciliary d... |
OMIM:613808 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... |
OMIM:613759 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 35 |
|
Chronic rhinitis, Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections... |
OMIM:617092 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Immotile cilia, Ciliary dyskinesia, Bronchiectasis |
OMIM:616481 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Hypospadias, Situs inversus totalis |
OMIM:615985 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Restrictive ventilatory defect, Dextrocardia, Situs inversus totalis, Vertebral ... |
OMIM:613686 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Transp... |
OMIM:231060 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Double... |
OMIM:270100 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis, Retinal arterial macroaneurysms |
OMIM:614224 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... |
OMIM:613426 |
| Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Respiratory failure, Situs inversus... |
OMIM:602088 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Pulmonary artery hypoplasia, Premature ventricular contraction, Dextrocardia, ... |
ORPHA:1686 |
| Hypoglossia With Situs Inversus |
|
High palate, Situs inversus totalis, Microglossia, Upper airway obstruction, Asplenia, Respirator... |
OMIM:612776 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Productive cough, Wheezing, Anomalous pulmonary venous return, Int... |
ORPHA:244 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia |
OMIM:601348 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Intestinal malrotation, Chronic sinusitis, Situs inversus totalis, ... |
OMIM:619608 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... |
OMIM:615294 |
| Meacham Syndrome |
|
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus ... |
OMIM:608978 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus |
OMIM:125520 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Pulmonic stenosis, Abdominal situs inversus, Asplenia, Ventricular septal defect, Atrio... |
OMIM:619123 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... |
OMIM:615415 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... |
OMIM:617912 |
| Colonic Atresia |
|
Colonic atresia, Duodenal stenosis, Abdominal situs inversus, Abnormality of mesentery morphology... |
ORPHA:1198 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Obstructive sleep apnea, Mandibu... |
OMIM:609008 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... |
ORPHA:1354 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Fixed Subaortic Stenosis |
|
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... |
ORPHA:3092 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Complete Atrioventricular Septal Defect |
|
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... |
ORPHA:1329 |
| Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide |
OMIM:615872 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Pulmonic stenosis, Restrictive cardiomyopathy, Death in infancy, Tricusp... |
OMIM:619433 |
| Ciliary Dyskinesia, Primary, 43 |
|
Chronic rhinitis, Bronchiectasis, Productive cough, Abdominal situs inversus, Neonatal respirator... |
OMIM:618699 |
| Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Portal hypertension, Multiple glomerular cysts, Patent ductus arteriosus, Panc... |
OMIM:267010 |
| Dextrocardia |
|
Intestinal malrotation, Pancreatic hypoplasia, Congenital malformation of the great arteries, Dex... |
ORPHA:1666 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Upper airway obstruction, Cor pulmonale, Micrognathia |
OMIM:261800 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... |
OMIM:108900 |
| Meacham Syndrome |
|
Tetralogy of Fallot, Pulmonary sequestration, Horseshoe kidney, Aplasia/Hypoplasia of the lungs, ... |
ORPHA:3097 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Isomerism, Atrioventricular canal defect, Hydronephrosis, Transposition of the g... |
OMIM:314390 |
| Atrioventricular Septal Defect 3 |
|
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... |
OMIM:600309 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotran... |
OMIM:619657 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Hydronephrosis, Single ventricle, Ventricular septal defect, Right aortic arch... |
OMIM:601186 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacit... |
OMIM:619436 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Pectus excavatum, Ventricular se... |
ORPHA:261243 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:1455 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Patent ductus arteriosus, Pancreatic cysts,... |
OMIM:208540 |
| Partial Atrioventricular Septal Defect |
|
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... |
ORPHA:1330 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617610 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect |
OMIM:614474 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... |
OMIM:612474 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... |
OMIM:618845 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis |
OMIM:249270 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... |
OMIM:601493 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... |
ORPHA:99050 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyo... |
OMIM:253300 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Abnormal heart morphology, Abnormal lung morpholog... |
ORPHA:294975 |
| Ciliary Dyskinesia, Primary, 1 |
|
Immotile cilia, Pneumonia, Chronic rhinitis, Situs inversus totalis, Bronchiectasis, Recurrent br... |
OMIM:244400 |
| Poland Syndrome |
|
Hypoplasia of serratus anterior muscle, Unilateral oligodactyly, Unilateral absence of pectoralis... |
OMIM:173800 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect |
DECIPHER:39 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Abnormal heart morphology, Recurrent respiratory infections |
OMIM:617744 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... |
OMIM:610338 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... |
OMIM:617478 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... |
ORPHA:1909 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Aplasia/Hypoplasia of the thumb, Situs inversus totalis, Micrognathia, Micro... |
ORPHA:1908 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary insufficienc... |
ORPHA:2326 |
| Criss-Cross Heart |
|
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... |
ORPHA:1461 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... |
OMIM:619343 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... |
OMIM:613424 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Micrognathia |
OMIM:221950 |
| Ciliary Dyskinesia, Primary, 11 |
|
Immotile cilia, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesi... |
OMIM:612649 |
| Thoraco-Abdominal Enteric Duplication |
|
Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegaly, Dextrocardia, Duodenal... |
ORPHA:1759 |
| Double Outlet Right Ventricle |
|
Tetralogy of Fallot, Intestinal malrotation, Heterotaxy, Tachypnea, Double outlet right ventricle... |
ORPHA:3426 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
| Agnathia-Otocephaly Complex |
|
Tracheomalacia, Situs inversus totalis, Micrognathia, Mandibular aplasia, Secundum atrial septal ... |
OMIM:202650 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis |
OMIM:616726 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Vascular dilatation, Polycystic kidney dysplasia |
OMIM:614859 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... |
ORPHA:2248 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis |
OMIM:614300 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Abnormal heart valve morphology, Pulmonic stenosis |
OMIM:126190 |
| Primary Pulmonary Hypoplasia |
|
Restrictive ventilatory defect, Patellar hypoplasia, Hypoxemia, Asthma, Abnormal breath sound, Ne... |
ORPHA:2257 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Micrognathia, Ventricular septal defect, Transposition... |
ORPHA:1913 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, Recurrent respiratory infec... |
OMIM:615993 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... |
OMIM:604169 |
| Ciliary Dyskinesia, Primary, 34 |
|
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beati... |
OMIM:617091 |
| Congenital Alveolar Capillary Dysplasia |
|
Hypoplastic left heart, Duodenal stenosis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:210122 |
| Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:610852 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... |
OMIM:618164 |
| Meckel Syndrome |
|
Anophthalmia, Ureteral duplication, Pancreatic cysts, Accessory spleen, Situs inversus totalis, M... |
ORPHA:564 |
| Bardet-Biedl Syndrome 17 |
|
Renal cyst, Micropenis, Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney di... |
OMIM:615994 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... |
OMIM:178600 |
| Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis |
OMIM:615481 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Immotile cilia, Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia |
OMIM:242680 |
| Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm |
OMIM:618496 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Atrial septal defect, Abnormally large globe, Knee flexion contracture, ... |
OMIM:603387 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia, Ventricular septal defect, Pulmona... |
OMIM:615524 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Nephrocalcinosis, Jaundice, Giant cell hepatitis, Ventricular septal defe... |
OMIM:613404 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:615297 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology |
OMIM:615373 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... |
ORPHA:1926 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Abnormal... |
OMIM:601612 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Patent ductus arteriosus, Dextrocardia, Micrognathia, Camptodactyly of... |
ORPHA:2863 |
| Cardiac-Urogenital Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Micropenis, Dysplastic tricuspid... |
OMIM:618280 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... |
OMIM:612158 |
| Meckel Syndrome, Type 1 |
|
Renal agenesis, Abnormality of the ureter, Patent ductus arteriosus, Accessory spleen, Bile duct ... |
OMIM:249000 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Abnormal respiratory system physiology, Sinusitis, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Aorto-Ventricular Tunnel |
|
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Abnormal coronar... |
ORPHA:3400 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Pulmonary arte... |
OMIM:616777 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... |
OMIM:614954 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Chronic rhinitis, Bronchiectasis |
OMIM:618801 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular acidosis, Nephrocalcinosis, Atrial septal defect, Jaundice, Giant cell hepatitis, V... |
OMIM:208085 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger, Optic disc hypoplasia |
DECIPHER:70 |
| Megabladder, Congenital |
|
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... |
OMIM:618719 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Respiratory distress, Situs inversus totalis |
ORPHA:990 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
| Rowley-Rosenberg Syndrome |
|
Aminoaciduria, Recurrent pneumonia, Cor pulmonale, Right ventricular hypertrophy |
OMIM:268500 |
| Congenital Gerbode Defect |
|
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... |
ORPHA:99095 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Tetralogy of Fallot, Perineal hypospadias, Microphallus |
OMIM:615542 |
| Alagille Syndrome 2 |
|
Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosi... |
OMIM:610205 |
| Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:619048 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... |
OMIM:109730 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Renal hypoplasia, Respiratory failure, Ventricular septal defect, Truncus arteriosus,... |
OMIM:228940 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Pulmonary hypopla... |
ORPHA:3033 |
| Aorta Coarctation |
|
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... |
ORPHA:1457 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... |
OMIM:617805 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... |
OMIM:265380 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... |
OMIM:619371 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... |
OMIM:619418 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Microphthalmia, Right ventricular hypertro... |
ORPHA:335 |
| Weill-Marchesani Syndrome |
|
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... |
ORPHA:95430 |
| Hadziselimovic Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Ritscher-Schinzel Syndrome 1 |
|
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Double outlet right ventricle, Pulmonic ... |
OMIM:220210 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| 22Q11.2 Duplication Syndrome |
|
Tetralogy of Fallot, Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Displacem... |
ORPHA:1727 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... |
OMIM:179613 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... |
ORPHA:216694 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
| Pyloric Atresia |
|
Congenital pyloric atresia, Polyhydramnios |
OMIM:265950 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Mal... |
ORPHA:79301 |
| Pentalogy Of Cantrell |
|
Renal agenesis, Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Atrial ... |
ORPHA:1335 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... |
OMIM:173900 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... |
OMIM:263200 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
| Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Arrhythmia, Pulmonic stenosis, Mitral valve prolapse, Tricuspid ... |
ORPHA:228410 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Scoliosis, Abdominal situs inversus, Hemivertebrae, Kyphosis |
ORPHA:2062 |
| Stromme Syndrome |
|
Accessory spleen, Hydronephrosis, Optic nerve hypoplasia, Microphthalmia, Bilateral renal hypopla... |
OMIM:243605 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Dextrocardia, Coarctation of aorta, Micrognathia, Ventricular septal defect, Ca... |
OMIM:616145 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... |
ORPHA:99125 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Bicuspid... |
OMIM:619149 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... |
OMIM:614980 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... |
OMIM:618316 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Abnormal heart morphology, Trismus, Micrognathia |
OMIM:218450 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic sinusitis, Ciliary dyskinesia, Chronic rhinitis, Bronchiectasis |
OMIM:612650 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
| Noonan Syndrome 8 |
|
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... |
OMIM:615355 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transaminase, Cardio... |
OMIM:617713 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
| Trisomy 13 |
|
Anophthalmia, Abnormality of the ureter, Patent ductus arteriosus, Atrial septal defect, Hydronep... |
ORPHA:3378 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Abnormality of the kidney, Renal insufficiency |
OMIM:615987 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short 5th metacarpal, 11 pairs of ribs, Pulmonic stenosis, Anterior open-bite malocclusion, Obstr... |
OMIM:617877 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Co... |
OMIM:264480 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Horseshoe kidney, Atrial septal defect, Micropenis, Muscular ventricul... |
ORPHA:363444 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Familial Visceral Myopathy |
|
Abdominal situs inversus, Aganglionic megacolon, Cleft palate |
ORPHA:2604 |
| Chromosome 15Q25 Deletion Syndrome |
|
Pectus excavatum, Dextrocardia, Abnormal cardiac septum morphology |
OMIM:614294 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Horseshoe kidney, Renal hypoplasia, Abnormal spleen morphology, Congenital diaphrag... |
ORPHA:2470 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Hy... |
OMIM:313850 |
| Pagod Syndrome |
|
Pulmonary artery hypoplasia, Arrhythmia, Sudden cardiac death, Situs inversus totalis, Hypoplasti... |
ORPHA:991 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventricular septal def... |
ORPHA:401935 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... |
ORPHA:1120 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis, Respiratory i... |
ORPHA:2111 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Decreased liver function, Hepatic cysts, Polycystic kidney dys... |
OMIM:600666 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... |
OMIM:601927 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... |
ORPHA:3304 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect |
OMIM:212090 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Bic... |
ORPHA:284169 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Achilles tendon contracture, Abnormal macrophage morphology, Increased endomysial connective tiss... |
ORPHA:353 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Diamond-Blackfan Anemia 6 |
|
Tetralogy of Fallot, Tracheomalacia, Patent ductus arteriosus, Atrial septal defect, Short thumb,... |
OMIM:612561 |
| Ellis Van Creveld Syndrome |
|
Emphysema, Hydroureter, Abnormality of the ureter, Abnormal heart valve morphology, Aplasia/Hypop... |
ORPHA:289 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... |
ORPHA:617 |
| Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Pleural effusion, Pulmonic stenosis, Pulmonary arterial hypertension, C... |
ORPHA:2414 |
| Joubert Syndrome |
|
Abnormal form of the vertebral bodies, Episodic tachypnea, Aganglionic megacolon, Abnormal patter... |
ORPHA:475 |
| Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... |
OMIM:300972 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia, Left ventr... |
OMIM:616733 |
| Distal Tetrasomy 15Q |
|
Horseshoe kidney, Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Hydronephr... |
ORPHA:314588 |
| Campomelia, Cumming Type |
|
Polycystic liver disease, Polysplenia, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Patent foramen ovale, Atrial septal defect, Dysphagia, Respiratory distress |
ORPHA:89844 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... |
OMIM:615112 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Flexion contracture, Pneumonia, Skeletal muscle atrophy, Muscle fib... |
OMIM:253700 |
| Marden-Walker Syndrome |
|
Renal agenesis, Hydroureter, Abnormal anatomic location of the heart, Renal hypoplasia/aplasia, A... |
ORPHA:2461 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Renal hypopl... |
ORPHA:1166 |
| Thymic Aplasia With Fetal Death |
|
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus |
OMIM:274210 |
| Nephronophthisis 20 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:617271 |
| 8P23.1 Microdeletion Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... |
ORPHA:251071 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... |
ORPHA:2838 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... |
OMIM:143400 |
| Tangier Disease |
|
Splenomegaly, Hepatomegaly, Facial diplegia, Coronary artery atherosclerosis, Atherosclerosis, Di... |
OMIM:205400 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosu... |
ORPHA:980 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Malar flatt... |
ORPHA:1919 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst |
OMIM:618270 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... |
OMIM:600001 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Abnormality of the pancreas, Abnormal ... |
ORPHA:3032 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Mcdonough Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:248950 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase |
OMIM:616974 |
| Fanconi Anemia, Complementation Group O |
|
Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis |
OMIM:613390 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice, Glossoptos... |
OMIM:614876 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Respiratory infections in early life |
OMIM:248110 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Micrognathia, Respiratory insufficiency due to muscle weakness, Myopathy,... |
OMIM:300580 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Abnormal car... |
OMIM:608776 |
| Keutel Syndrome |
|
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis, ... |
OMIM:245150 |
| Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... |
OMIM:108800 |
| Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Short thumb, Vent... |
OMIM:614326 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect, Optic disc hypoplasia, Accessory spleen |
OMIM:619306 |
| Microgastria-Limb Reduction Defects Association |
|
Unilateral renal agenesis, Absent gallbladder, Anophthalmia, Cystic renal dysplasia, Horseshoe ki... |
OMIM:156810 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Unilateral primary pulmonary dysgenesis, Ventricular septal defect, Pulmonar... |
OMIM:192430 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... |
OMIM:252011 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Recurrent respiratory infections, Hepatomegaly |
ORPHA:2432 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Ventricular septal defect |
OMIM:616277 |
| Carpenter Syndrome 1 |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Pulmonic ste... |
OMIM:201000 |
| Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Micropenis, Right aortic arch, Ventricular septal defect, Facial palsy |
OMIM:147770 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of ... |
ORPHA:280 |
| Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia |
ORPHA:3434 |
| Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Right ventricular hypertro... |
OMIM:614261 |
| Bowen Syndrome Of Multiple Malformations |
|
Abnormal heart morphology, Micrognathia |
OMIM:211200 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Micrognathia, Malar flattening, Ventricular septal defect, Camptodactyly of... |
ORPHA:1388 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Serkal Syndrome |
|
Pulmonary hypoplasia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Thoracic aort... |
OMIM:132900 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Esophageal varix, Bicuspid aortic valve, Intrahepatic bile duct dilatation, M... |
OMIM:618955 |
| Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Short thumb, Ventricular septal defect |
ORPHA:391646 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Coronary Arterial Fistula |
|
Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestiv... |
ORPHA:2041 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Periportal fibrosis, Congenital diaphragmatic hernia, Polycystic kidney dysp... |
OMIM:263210 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... |
OMIM:613496 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea, Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy |
OMIM:616501 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Hypereosinophilia, Thoracic aortic aneurysm, Asthma, Hydronephro... |
ORPHA:449400 |
| Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Respiratory insufficiency, Micrognathia, Hip contracture, Retrognathia, F... |
OMIM:615959 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:611376 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Aortic ... |
ORPHA:229 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Patent foramen ovale, Hypoxemia, Atrial septal defect, Muscular ventric... |
ORPHA:439 |
| 3C Syndrome |
|
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... |
ORPHA:7 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Respiratory failure, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Syndromic Diarrhea |
|
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Patent ductus arteriosu... |
ORPHA:84064 |
| Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Right ventricular hypertrophy, Congenital muscular dystrophy, Mus... |
ORPHA:324604 |
| Hydrolethalus Syndrome 1 |
|
Complete atrioventricular canal defect, Accessory spleen, Hydronephrosis, Microphthalmia, Agenesi... |
OMIM:236680 |
| Fetal Encasement Syndrome |
|
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Bilateral trilobed lungs... |
OMIM:613630 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular sep... |
OMIM:618804 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Hepatic steatosis, Proximal tubulopa... |
OMIM:231680 |
| Trisomy 1Q |
|
Anophthalmia, Patent ductus arteriosus, Hydronephrosis, Congenital diaphragmatic hernia, Multicys... |
ORPHA:261344 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Cardiac Valvular Defect, Developmental |
|
Urethral diverticulum, Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Hydronephrosis, ... |
OMIM:212093 |
| Isolated Polycystic Liver Disease |
|
Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly, Vascular dilatation, Multipl... |
ORPHA:2924 |
| Pericardial And Diaphragmatic Defect |
|
Tetralogy of Fallot, Hypoxemia, Patent ductus arteriosus, Atrial septal defect, Congenital diaphr... |
ORPHA:2847 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... |
ORPHA:2255 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Pectus excavatum, Abnormal heart morphology, Congenital... |
OMIM:100100 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Hypoplastic left heart, Polysplenia, Abnormality of the kidney |
OMIM:610543 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Enlarged kidney, Elevated circulating alanine aminotransferase concentrat... |
OMIM:608836 |
| Congenital Megacalycosis |
|
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... |
ORPHA:93109 |
| Aortic Arch Interruption |
|
Aortic valve atresia, Aortopulmonary window, Patent ductus arteriosus, Tachypnea, Double outlet r... |
ORPHA:2299 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Pulmonary hyp... |
ORPHA:2437 |
| Nasodigitoacoustic syndrome |
|
Pulmonic stenosis |
OMIM:255980 |
| Feingold Syndrome Type 1 |
|
Horseshoe kidney, Patent ductus arteriosus, Tricuspid atresia, Hydronephrosis, Tricuspid stenosis... |
ORPHA:391641 |
| Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... |
ORPHA:53035 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomega... |
OMIM:610199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Congenital muscular dystrophy, Micropenis, Muscular dystrophy, Macroglossia,... |
OMIM:613156 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Microphthal... |
ORPHA:290 |
| Short Rib-Polydactyly Syndrome |
|
Abnormality of the liver, Absent or minimally ossified vertebral bodies, Intestinal malrotation, ... |
ORPHA:1505 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... |
OMIM:145001 |
| Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... |
OMIM:617063 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hydronephrosis, Anemia, Renal insufficiency, Camptodactyly, Left ventricular hypertrophy, Thrombo... |
OMIM:611209 |
| Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal lung morphology, Right ventricular hypertrophy, Pulmonary sequestration |
ORPHA:70589 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Hydronephrosis, Decreased liver function, Duplicated collecting system, Elevat... |
OMIM:617093 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Hyperechogenic kidneys |
OMIM:613885 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis, Pulmonary arterial hypertensio... |
OMIM:616028 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Distal Trisomy 5Q |
|
Absent thumb, Hypoplasia of the ulna, Carious teeth, Hypoplasia of the radius, Dextrocardia, Micr... |
ORPHA:96097 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Hypoplastic spleen, T lymphocytopenia, Endocardial fibroelastosis, Impa... |
OMIM:619313 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Distal Trisomy 17Q |
|
Abnormal heart morphology, Vesicoureteral reflux, Renal duplication, Accessory spleen |
ORPHA:3379 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Patent ductus arteriosus, Hypoplasia of penis, Microphthalmia, Ventricular septal d... |
ORPHA:77298 |
| Down Syndrome |
|
Complete atrioventricular canal defect |
OMIM:190685 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Upper limb asymmetry, Abnormal tricuspid valve morphology, Patent ductus arter... |
ORPHA:90308 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Recurrent respiratory infectio... |
OMIM:609029 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibr... |
OMIM:200995 |
| Trisomy 17P |
|
Flexion contracture, Patent ductus arteriosus, Skeletal muscle atrophy, Hydronephrosis, Hypoplasi... |
ORPHA:261290 |
| Feingold Syndrome 1 |
|
Patent ductus arteriosus, Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
| Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Perineal hypospadias, Normochromic micr... |
ORPHA:66634 |
| Hallermann-Streiff Syndrome |
|
Tracheomalacia, High, narrow palate, Abdominal situs inversus, Glossoptosis, Respiratory insuffic... |
ORPHA:2108 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Patent ductus arteriosus, Right ventricular hypertrophy |
OMIM:613623 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Abnormal heart morphology, Short sternum, Micrognathia, Premature sternal synostosis |
OMIM:184800 |
| Noonan Syndrome 10 |
|
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... |
OMIM:616564 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... |
ORPHA:86812 |
| Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Situs inversus totalis |
ORPHA:199302 |
| Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increas... |
ORPHA:171442 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cardiac arrest, Left-to-right shunt, Dextrocardia, Ventricular septal defect, Inlet ventricular s... |
OMIM:619534 |
| Cardiomyopathy, Dilated, 1Kk |
|
Ventricular septal hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventric... |
OMIM:615248 |
| Cat-Eye Syndrome (Type I) |
|
Abnormal heart morphology, Micrognathia |
DECIPHER:42 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... |
OMIM:618619 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... |
ORPHA:392 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... |
ORPHA:477817 |
| Renpenning Syndrome |
|
Heterotaxy, Hypospadias, Skeletal muscle atrophy |
ORPHA:3242 |
| Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice |
OMIM:237500 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Abnormal mitral... |
ORPHA:500 |
| Roberts-Sc Phocomelia Syndrome |
|
Horseshoe kidney, Patent ductus arteriosus, Accessory spleen, Atrial septal defect, Long penis, A... |
OMIM:268300 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Lacticaciduria, 3-Methylglutaric aciduria, Restrictive ventilatory defect, Respiratory failure, P... |
ORPHA:26791 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Central Core Disease |
|
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Respiratory insuf... |
ORPHA:597 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Mosaic Trisomy 9 |
|
High palate, Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosi... |
ORPHA:99776 |
| Cranioectodermal Dysplasia 2 |
|
Renal cyst, Biliary cirrhosis, Patent foramen ovale, Patent ductus arteriosus, Cholestasis, Atria... |
OMIM:613610 |
| Hanac Syndrome |
|
Multiple renal cysts, Hematuria, Renal insufficiency |
ORPHA:73229 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Micrognathia |
ORPHA:261120 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Tetralogy of Fallot, Micropenis, Hydronephrosis, Dextrocardia, Pectus excavatum, Abnormal heart m... |
ORPHA:96092 |
| Isolated Splenogonadal Fusion |
|
Ectopia of the spleen, Polysplenia, Abnormal penis morphology |
ORPHA:457083 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
| Congenital Tricuspid Valve Dysplasia |
|
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... |
ORPHA:555874 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Disorder Of Bile Acid Synthesis |
|
Fat malabsorption, Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary ... |
ORPHA:79168 |
| Atrial Septal Defect, Ostium Primum Type |
|
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... |
ORPHA:99106 |
| Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... |
OMIM:605275 |
| Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:79234 |
| Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology, Deviation of finger |
ORPHA:903 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cor tria... |
OMIM:612541 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Recurrent respiratory infections, Respiratory distress, Nephronophth... |
OMIM:184260 |
| Aicardi-Goutieres Syndrome 9 |
|
Proteinuria, Anemia, Recurrent urinary tract infections, Hyperechogenic kidneys, Stage 5 chronic ... |
OMIM:619487 |
| Coffin-Siris Syndrome 10 |
|
Persistence of primary teeth, Ventricular septal defect |
OMIM:618506 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Caroli Syndrome |
|
Hepatic failure, Leukopenia, Portal hypertension, Leukocytosis, Cholangitis, Cholangiocarcinoma, ... |
ORPHA:480520 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Respiratory failure, Hydroureter |
OMIM:618240 |
| Cat Eye Syndrome |
|
Total anomalous pulmonary venous return, Intestinal malrotation, Anal atresia, Abnormal heart mor... |
OMIM:115470 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Muscular ventricular septal defect, Renal agenesis |
OMIM:619227 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatic steatosis, Cystic renal dysplasia, Hepatic failure, Tubul... |
ORPHA:228308 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Asthma, Aortic di... |
OMIM:130090 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Micrognathia |
OMIM:616901 |
| Phaver Syndrome |
|
Hypoplastic aortic arch, Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Rhabdomyolysis, Hepatic failure, Tubulointerstitial nephritis, Red-brown ... |
ORPHA:157 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Aortic root aneurysm, Pa... |
ORPHA:730 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... |
OMIM:608149 |
| Hypercalcemia, Infantile, 1 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:143880 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Jaundice, Polycystic kidney dysplasia, Hepatomegaly, Aminoacidur... |
OMIM:214110 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Micrognathia, Short distal phalanx of finger, Ventricular septal defect, ... |
ORPHA:2516 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
| Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Micrognathia, Acromelia of the... |
ORPHA:1027 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Hematuria, Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Nephropa... |
OMIM:611773 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Tetralogy of Fallot, Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... |
ORPHA:731 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Carpenter Syndrome |
|
Polysplenia, Patent ductus arteriosus |
ORPHA:65759 |
| Marden-Walker Syndrome |
|
Micropenis, Renal hypoplasia, Dextrocardia, Hypospadias, Pulmonary hypoplasia |
OMIM:248700 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal heart morphology, Obstructive sleep ap... |
OMIM:618494 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Lambert Syndrome |
|
Intrahepatic biliary atresia, Jaundice, Ventricular septal defect, Cholestasis |
ORPHA:1296 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Ventricular septa... |
OMIM:601005 |
| Loeffler Endocarditis |
|
Eosinophilia, Myocardial fibrosis, Abnormal heart valve morphology, Aortic valve stenosis, Abnorm... |
ORPHA:75566 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Scoliosis, Biliary... |
ORPHA:3191 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary t... |
ORPHA:1414 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins |
OMIM:618021 |
| Myofibrillar Myopathy 10 |
|
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Flexion contra... |
OMIM:619040 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Dea... |
OMIM:600460 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Flexion contracture, Congenital muscular dystrophy, Skeletal muscle atrop... |
OMIM:253800 |
| Grange Syndrome |
|
Short palm, Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:79094 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Hypopnea, Polycystic kidney dysplasia |
OMIM:619562 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hepatic failure, Patent ductus arteriosus, Atrial septal defect, Double outlet ri... |
OMIM:614886 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Atrial septal defect, Hydronephrosis, Subvalvular aortic stenosis, Periph... |
OMIM:613001 |
| Femoral-Facial Syndrome |
|
Abnormal localization of kidney, Long penis, Renal hypoplasia/aplasia, Polycystic kidney dysplasia |
ORPHA:1988 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonic stenosis |
OMIM:615508 |
| Johanson-Blizzard Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Dextrocardia, Hypospadias, Abnormal cardiac septum morphology |
ORPHA:2315 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... |
|
