Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... |
ORPHA:2970 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgi... |
OMIM:173900 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... |
ORPHA:391641 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... |
ORPHA:2547 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Int... |
ORPHA:75389 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic k... |
OMIM:613885 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... |
OMIM:613001 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... |
ORPHA:3033 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
2p15-16.1 microdeletion syndrome |
|
Optic disc hypoplasia, Hydronephrosis |
DECIPHER:70 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu... |
OMIM:220210 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Vascular dilatation |
OMIM:617219 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, A... |
ORPHA:1926 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Pulmonary arte... |
OMIM:611812 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c... |
ORPHA:1166 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
OMIM:600001 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Pelv... |
OMIM:601186 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Polycystic kidney dysplasia |
OMIM:614859 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... |
OMIM:615993 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab... |
ORPHA:251071 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de... |
ORPHA:261494 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... |
OMIM:612946 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesic... |
OMIM:300707 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri... |
OMIM:270100 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
ORPHA:2255 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Alagille Syndrome |
|
Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:52 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis |
OMIM:222300 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc... |
ORPHA:401935 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmon... |
ORPHA:140952 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... |
OMIM:614185 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:261344 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia |
OMIM:608776 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Intrau... |
ORPHA:195 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Renal hypoplasia, Coarct... |
OMIM:105650 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef... |
ORPHA:261290 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... |
ORPHA:49 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias |
OMIM:615542 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosi... |
OMIM:611773 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arte... |
OMIM:201000 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus... |
OMIM:208540 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Parachute mitral valve,... |
OMIM:618316 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:247990 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Panc... |
OMIM:263200 |
Codas Syndrome |
|
Hydroureter, Ventricular septal defect |
ORPHA:1458 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Pulmonary artery ... |
ORPHA:96167 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Atrial septal defect, Microphthalmia, Intrauterine growth ... |
OMIM:611134 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced... |
OMIM:619902 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Patent ductus arter... |
ORPHA:3378 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Syndromic Diarrhea |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:84064 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Bicuspid aortic valve |
OMIM:616367 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Vesicoureteral reflux, Peripheral pulmonary artery stenosis |
OMIM:614749 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Intrau... |
OMIM:614846 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrau... |
OMIM:620135 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Pulmonary hypoplasia, Polycystic kid... |
OMIM:619879 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... |
ORPHA:2461 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Pulmonary artery stenos... |
OMIM:300998 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:614815 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Patent ductus arteriosu... |
ORPHA:163956 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... |
ORPHA:477817 |
Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse... |
OMIM:115470 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Renal agenesis, Anomalous origin of left coronary artery from the pulmonary... |
ORPHA:2326 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Abnormal cardiac septum morphology, Microphthalm... |
ORPHA:2712 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial I... |
OMIM:613496 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... |
ORPHA:1727 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology |
OMIM:613390 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmon... |
ORPHA:2437 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Abnormal cardiac ventri... |
ORPHA:90349 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Pul... |
OMIM:301056 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pulmonary sequestration, Atrial... |
OMIM:618330 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia, Microphth... |
OMIM:615524 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... |
ORPHA:411709 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal defect |
ORPHA:276432 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Verheij Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Renal cyst, ... |
OMIM:615583 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... |
OMIM:118450 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,... |
OMIM:613630 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias |
ORPHA:1919 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s... |
OMIM:301068 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... |
OMIM:608836 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Hypospadias |
ORPHA:435938 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micropenis, Patent for... |
OMIM:619189 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Hypospadias, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Hydroureter, Patent ductus arteriosus, Hypertrophy of the u... |
ORPHA:280633 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... |
OMIM:617516 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Geleophysic Dysplasia 1 |
|
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal loc... |
ORPHA:83473 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Pulmon... |
OMIM:100300 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Red-brown urine, Renal tub... |
ORPHA:228308 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... |
ORPHA:3426 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:3032 |
Image Syndrome |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenos... |
OMIM:208050 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Mul... |
OMIM:613177 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath... |
ORPHA:157 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Optic disc hypoplasia, Optic nerve h... |
ORPHA:79345 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis, Portal hypertension |
OMIM:619431 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Aplas... |
ORPHA:3305 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pulm... |
OMIM:280000 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a... |
ORPHA:2209 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Pulmonary hypoplasia, Atriov... |
OMIM:314390 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal lung lobation, Abno... |
ORPHA:2516 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Congestive heart failure, Lacticaciduria, Abnormal heart morphology, Cardiomyo... |
ORPHA:26791 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic... |
OMIM:610759 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dysplasia, Nephronophth... |
OMIM:184260 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular mor... |
ORPHA:902 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux |
ORPHA:228399 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrauterine growth retardation, Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morph... |
OMIM:214110 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe |
OMIM:618504 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Enlarged kidney, Aortic valve... |
OMIM:615415 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arterio... |
OMIM:617506 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Coarctation of aorta, Biventricular hypertrophy, Telangiectasia, Atria... |
ORPHA:101028 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... |
ORPHA:2237 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Fetal pyelectasis, Recurrent upper respiratory tract infect... |
ORPHA:264450 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Supr... |
OMIM:300855 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis |
ORPHA:568 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Pa... |
OMIM:608978 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa... |
ORPHA:290 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Renal hypoplasia, Truncu... |
OMIM:616589 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retardation, Patent foramen o... |
OMIM:620327 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Tetralogy of Fallot |
ORPHA:1381 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... |
ORPHA:90308 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation |
OMIM:602200 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... |
ORPHA:90324 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... |
ORPHA:223 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Abnormal renal morphology, Vesicoureteral refl... |
OMIM:609053 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Microphthalmia, T... |
OMIM:300887 |
3C Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral... |
ORPHA:7 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... |
OMIM:123700 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Fanconi Anemia |
|
Atrial septal defect, Hypospadias, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Abno... |
ORPHA:84 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... |
OMIM:606232 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... |
OMIM:219730 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Re... |
OMIM:618460 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Hypospadias, Ventricular septal defect, Renal cyst... |
OMIM:614866 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysf... |
OMIM:614886 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Renal duplication, Abnormally large globe |
ORPHA:96190 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... |
OMIM:616276 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cor pulmonale, Hydronephrosis, Mitral valve prolapse |
OMIM:305620 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ... |
ORPHA:139466 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal def... |
OMIM:613870 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:610733 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Patent foramen... |
OMIM:618950 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Pulmonary hypoplasia, Polycystic kidney dyspl... |
OMIM:263520 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst, Abnormal heart morp... |
ORPHA:369837 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Nephroblastoma, Ventricular septal defect |
OMIM:602501 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:614091 |
Distal Duplication 6P |
|
Abnormal lung lobation, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth ... |
ORPHA:1745 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Pa... |
ORPHA:99776 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... |
ORPHA:90348 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Atrial ... |
OMIM:249270 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Intrauterine growth r... |
OMIM:301030 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Lambert Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... |
OMIM:236700 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia |
OMIM:236500 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... |
OMIM:610198 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Tetralo... |
ORPHA:2328 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Vesicoureteral reflux, Atrial septal def... |
ORPHA:567 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Hematochezia, Renal tubular acidosis... |
OMIM:619575 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... |
OMIM:194050 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Pulmonary hyp... |
OMIM:616897 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum... |
ORPHA:2260 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebra... |
ORPHA:904 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Recurrent respiratory infections |
ORPHA:2432 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia, Atrial septal defect... |
OMIM:616854 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:616546 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept... |
ORPHA:2059 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, V... |
ORPHA:373 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Coarctation of aorta, Abnormal aortic morphology, Intraut... |
ORPHA:1923 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Intrauterine growth retardation, ... |
ORPHA:1780 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Abnormality of the ureter |
ORPHA:1035 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Abnormal vena cava morphology, Heart murmur, Renal cyst, Horseshoe kid... |
ORPHA:166035 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Faciocardiorenal Syndrome |
|
Horseshoe kidney, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... |
ORPHA:805 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis |
OMIM:301058 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Pulmonary arterial hypertension, Atr... |
OMIM:616449 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... |
ORPHA:363444 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Heart murmur, Ectopic kidney |
OMIM:606744 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Megalencephaly |
|
Atrial septal defect, Long penis |
ORPHA:2477 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Patent ductus arterios... |
ORPHA:77298 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Vesicoureter... |
OMIM:607323 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Coronal hypospadias, Hypospadias, Abnormal localization of kidney |
ORPHA:921 |
Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... |
OMIM:264480 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia, Intrauterine growth retardation |
OMIM:615665 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Congenital Myopathy 12 |
|
Pulmonary artery stenosis |
OMIM:612540 |
Joubert Syndrome 14 |
|
Ventricular septal defect, Renal cyst, Intracranial hemorrhage, Hypertension, Microphthalmia |
OMIM:614424 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Portal hypertension, Pancreatic cysts, Renal cyst, Buphthalmos, Polycystic kidney dysplasia, Intr... |
OMIM:610199 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Intrauterine growth retardation, Recurrent lower respiratory tract infectio... |
OMIM:617744 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C... |
OMIM:249000 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta... |
ORPHA:2044 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616777 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease |
ORPHA:1667 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Vesicoureteral reflux... |
OMIM:615879 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse |
OMIM:104350 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... |
ORPHA:1596 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Patent... |
OMIM:235730 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... |
OMIM:614080 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Patent ... |
OMIM:613680 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:1120 |
Distal Deletion 12Q |
|
Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki... |
ORPHA:96149 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Heart murmur, Multiple bladder diverticula, Atrial septal defect, Microphthalmia, In... |
ORPHA:2728 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abnormality of the... |
ORPHA:1666 |
Matthew-Wood Syndrome |
|
Anophthalmia, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pulmonary hypoplasia,... |
ORPHA:2470 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular... |
OMIM:208085 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Pulmona... |
ORPHA:2847 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left... |
ORPHA:2772 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... |
OMIM:600460 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... |
OMIM:220500 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, R... |
ORPHA:397 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atria... |
OMIM:603467 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aorta, Pulmonary hypo... |
ORPHA:1692 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the urinary system, Atrial se... |
OMIM:244300 |
Zaki Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Nephrocalcinosis, Congestive heart failure |
ORPHA:500533 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst |
OMIM:611561 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve stenosis, Atrial se... |
OMIM:617660 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Vici Syndrome |
|
Renal tubular acidosis, Cardiomyopathy, Recurrent respiratory infections, Ureteral atresia |
ORPHA:1493 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Atrial septal defect, Micropenis, Hydronephrosis |
OMIM:269150 |
Immunodeficiency 49 |
|
Pulmonary artery stenosis |
OMIM:617237 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid... |
OMIM:612562 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Microphthalmia, Recurrent urinary tract infections, Left superior vena cava... |
OMIM:611961 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d... |
OMIM:102500 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... |
ORPHA:85284 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst, Intrauterine growth retardation |
OMIM:603194 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypospadias |
ORPHA:141333 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret... |
ORPHA:250989 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Horseshoe kidney |
OMIM:218350 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... |
OMIM:614922 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy... |
ORPHA:1046 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation, Cardiomegaly |
ORPHA:858 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Abnormality of the kidney |
ORPHA:466926 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal cardiac septum morphology, Ves... |
ORPHA:96169 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Dilatation of the ventricular ... |
ORPHA:459070 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Vesicoureteral reflux, Microph... |
ORPHA:494344 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Microphthalmia, Micropenis, ... |
ORPHA:335 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... |
ORPHA:2184 |
Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Intrauterine growth retardation, Tet... |
OMIM:311900 |
Femoral-Facial Syndrome |
|
Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni... |
OMIM:134780 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Nephrocalcinosis |
OMIM:611087 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:609029 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Vascular dilatation, Abnormal heart morphology, Ovarian cyst, Hype... |
OMIM:311200 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Mungan Syndrome |
|
Tricuspid regurgitation, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic ste... |
OMIM:611376 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:617159 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:620210 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney... |
OMIM:235510 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Aortic valve sten... |
OMIM:272950 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... |
OMIM:614261 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Buphthalmos, Nephrocalcinosis, Atrial septal defect, Intrauterine growt... |
OMIM:618005 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr... |
OMIM:216360 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Abnormally large globe, Vascular ring, Mitral regurgitation, Atrial se... |
OMIM:603387 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutacon... |
ORPHA:445038 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Hydronephrosis |
OMIM:619185 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Intrauterine ... |
ORPHA:2315 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal agenesis, Pulmonar... |
ORPHA:1335 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... |
ORPHA:449395 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of the skin, Renal hypopl... |
ORPHA:2092 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... |
OMIM:615355 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis |
OMIM:618624 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Recurrent respiratory infections, Abnormal cardiac septum morphology, Hydr... |
ORPHA:2484 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... |
OMIM:617107 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Abnormally large globe, Pancreatic lymphangiectasis, Abnormal renal mo... |
ORPHA:1655 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, ... |
OMIM:613404 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Coarctation of aort... |
ORPHA:2008 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Abnormal cardiac septum morphology... |
ORPHA:2075 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Genitopatellar Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis |
ORPHA:85201 |
Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... |
ORPHA:2876 |
Raine Syndrome |
|
Hydroureter, Pulmonary hypoplasia, Hydronephrosis |
OMIM:259775 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:3306 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... |
OMIM:601927 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, ... |
ORPHA:2655 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Renal cyst, Abnormal heart morphology, Ovarian cyst, Me... |
ORPHA:400 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy... |
OMIM:619167 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Ectopic ki... |
OMIM:135900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar... |
OMIM:210710 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Hypertension, S... |
OMIM:617021 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:3079 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst... |
OMIM:200980 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Atrial... |
OMIM:300712 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h... |
OMIM:245150 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Abnormal lung m... |
ORPHA:141127 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct... |
OMIM:610443 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal renal morpho... |
ORPHA:329224 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Intrauterine growth retardation |
OMIM:616258 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopa... |
OMIM:614576 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453499 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Dysplastic tricuspid valve, Horseshoe kidne... |
ORPHA:1724 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Pulmonary arterial hypertension, Mal... |
ORPHA:464738 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Abnormal lung morphology, Patent ductus arteriosus, Horse... |
ORPHA:1708 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia |
ORPHA:1473 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Pulmonary artery atresia, Intrauterine growth ... |
ORPHA:1908 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Ure... |
ORPHA:79328 |
Vater/Vacterl Association |
|
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... |
OMIM:192350 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias |
ORPHA:912 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Abnormally large globe, Secundum atrial septal defect, Mitral valve pr... |
OMIM:249420 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph... |
OMIM:235255 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis |
OMIM:608980 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Abnormal renal morphology, Patent foramen ovale |
OMIM:610883 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Spontaneous... |
ORPHA:731 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Optic disc hypoplasia, Patent ductus arteriosus, Abnor... |
OMIM:300514 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Cor triatriatum, Prominent ... |
OMIM:612541 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia |
ORPHA:1770 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... |
OMIM:618454 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Intrauterine growth retardation, Ureteropelvic junction obstr... |
OMIM:617557 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Recurrent respiratory infections, Hydroureter, Renal agenesis, Hydr... |
OMIM:129900 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
ORPHA:500159 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... |
ORPHA:1225 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Noonan Syndrome |
|
Pulmonary artery stenosis, Arrhythmia, Abnormal pulmonary valve morphology |
ORPHA:648 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Micropenis, Microphthalmia, Aortic valve stenosis |
OMIM:243310 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale |
OMIM:618821 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent d... |
ORPHA:464311 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Atrial septal defect, Pul... |
OMIM:614857 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney, Aplasia/Hypoplasia of ... |
ORPHA:93274 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the iris, Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter |
OMIM:619194 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Crossed fused renal ectopia, Renal hy... |
ORPHA:2538 |
Charge Syndrome |
|
Anophthalmia, Overriding aorta, Ventricular septal defect, Renal agenesis, Pulmonary artery atres... |
OMIM:214800 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... |
ORPHA:261197 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Renal hypoplasia, Pulmonary hypoplasia, Microphthalmia, Micropenis, In... |
OMIM:248700 |
Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Fryns Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Renal agenesis, Renal cyst, Pulmona... |
OMIM:229850 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Pulmonic stenosis, Atrial ... |
OMIM:257300 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the kidney, Raynau... |
ORPHA:167635 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hyp... |
ORPHA:2519 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial ... |
OMIM:620070 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis |
OMIM:602342 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Lymphangiectasis, Renal cyst |
OMIM:602579 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Abnormality of the urinary system, Micropenis, Tetralogy... |
ORPHA:96092 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Abnormal T-wa... |
ORPHA:444072 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Int... |
OMIM:618804 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... |
ORPHA:974 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Pht... |
OMIM:300166 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Mic... |
ORPHA:435638 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Abnorm... |
OMIM:617397 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Abnormal... |
ORPHA:2745 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Secundum atrial septal defect, Congestive heart failure, Perimembranous ventr... |
OMIM:608779 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Tetralogy of Fallot |
OMIM:136760 |
Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Patent ductus arteriosus, Atrial sep... |
OMIM:617190 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal... |
ORPHA:96170 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent respiratory infections, Abn... |
ORPHA:667 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Pulmonary ... |
ORPHA:96334 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol... |
OMIM:616737 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Netherton Syndrome |
|
Recurrent respiratory infections, Ectopic kidney, Aminoaciduria, Emphysema, Hydronephrosis |
ORPHA:634 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Ventricular septal defect, Pancreatic cysts, Patent duct... |
OMIM:274000 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Micro Syndrome |
|
Hypoplasia of penis, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Intrauterin... |
ORPHA:2510 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Congestive heart failure... |
ORPHA:2331 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Renal hypoplasia/aplasia |
ORPHA:1438 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Pulmonary arterial hypertension, Subvalv... |
ORPHA:65286 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia |
ORPHA:2345 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Heart murmur, Intracranial hemo... |
ORPHA:163979 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent d... |
ORPHA:464306 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... |
ORPHA:369929 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Ventricular septal defect, Abnormal medullary pyramid morphology... |
ORPHA:79243 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... |
OMIM:301043 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo... |
OMIM:615668 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Roberts Syndrome |
|
Microphthalmia, Long penis, Severe intrauterine growth retardation, Polycystic kidney dysplasia |
ORPHA:3103 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
Tarp Syndrome |
|
Horseshoe kidney, Pulmonary hypoplasia, Atrial septal defect, Intrauterine growth retardation, Te... |
ORPHA:2886 |
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 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Caroli Disease |
|
Portal hypertension, Polycystic kidney dysplasia |
ORPHA:53035 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Junctional ectopic tachycardia, Chordee... |
OMIM:309801 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Ventricular septal defect, Coarctation of aorta, Ectopic kidney |
ORPHA:268249 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect |
ORPHA:452 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... |
OMIM:606003 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Tyshchenko Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen o... |
OMIM:618653 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Congestive heart failure, Abnormal... |
ORPHA:35687 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Ventricular septal defect, Nephronophthisis |
OMIM:615630 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Intrauterine growt... |
OMIM:620113 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Proteinuria, Congestive heart failure, Patent ductus arteriosus... |
OMIM:617303 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... |
OMIM:227650 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Hypercalciuria, Congenital m... |
ORPHA:116 |
Refsum Disease |
|
Heart block, Microphthalmia, Renal insufficiency, Cardiomyopathy |
ORPHA:773 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm |
OMIM:301039 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:352490 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Patent ductus arteriosus, Hydronephrosis, Atrial septal defect,... |
OMIM:300968 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta,... |
ORPHA:1052 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of ... |
ORPHA:2869 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Horsesho... |
OMIM:227645 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation o... |
ORPHA:97360 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Pul... |
OMIM:214100 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Abnormal heart mo... |
OMIM:600901 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect, Intrauterine growth retardation |
OMIM:616938 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Multicystic kidney dysplasia, Optic nerve... |
ORPHA:261349 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale |
ORPHA:89844 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Intrau... |
OMIM:611209 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten... |
ORPHA:141099 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... |
OMIM:300963 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Intrauterine growth retardation |
OMIM:610756 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation o... |
ORPHA:96147 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ... |
ORPHA:1507 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angi... |
OMIM:191100 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g... |
ORPHA:3474 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Mitral regurgitation, Atrial septal... |
ORPHA:254346 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Branchio-Oculo-Facial Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Chand Syndrome |
|
Atelectasis, Hydroureter |
ORPHA:1401 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Functional abnormality of the bladder, Pneumothorax, Nephrolithi... |
ORPHA:2953 |
Temtamy Syndrome |
|
Microphthalmia, Aortic aneurysm |
ORPHA:1777 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... |
OMIM:616975 |
Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Atrial septal defect, Micropht... |
ORPHA:3380 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v... |
ORPHA:459061 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Horseshoe kidney, Ves... |
OMIM:619103 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Abnormal lung morphology,... |
ORPHA:464329 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... |
ORPHA:2438 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo... |
OMIM:601808 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Situs inversus totalis, Pancrea... |
ORPHA:564 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency... |
ORPHA:900 |
Caroli Syndrome |
|
Abnormality of the kidney, Portal hypertension, Hematemesis, Melena, Polycystic kidney dysplasia |
ORPHA:480520 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal d... |
OMIM:257920 |
Kabuki Syndrome 2 |
|
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Intrauterine gro... |
OMIM:300867 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia, Hypospadias |
OMIM:619314 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Hypospadias, Coarctation of aorta, Aortic roo... |
OMIM:617602 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, Recurrent upper respiratory tract infections, Intrauterine growth retarda... |
OMIM:612513 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:614526 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Aplasia/Hypoplasia affecting the eye, Multiple re... |
ORPHA:1318 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Intr... |
OMIM:180860 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, Horseshoe kidney, S... |
OMIM:268300 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia, H... |
OMIM:612284 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defec... |
OMIM:618870 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricu... |
ORPHA:508498 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Abnormal lung morphology, Hydronephrosis |
ORPHA:35173 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Me... |
ORPHA:209905 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Abnormal lung lobation, Aplasia/Hypoplasia o... |
ORPHA:3301 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Abnormal cardiac septum morph... |
ORPHA:90652 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... |
ORPHA:314585 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... |
ORPHA:959 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Perimembranous ventricular septal defect,... |
OMIM:301040 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... |
ORPHA:261311 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Pulmonary hypoplasia, Intrauterine growt... |
OMIM:608022 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Pulmo... |
OMIM:313850 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Ca... |
OMIM:613254 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Abnormal pericardium morphology, Portal hypertension, Pancreatic cysts, Renal cys... |
ORPHA:284 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation |
OMIM:615476 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retardation, Mic... |
ORPHA:363528 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... |
OMIM:618282 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Hypospadias |
OMIM:618109 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... |
OMIM:619758 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulf... |
ORPHA:505248 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Intrauterine growth retardation |
ORPHA:521308 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... |
OMIM:617729 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Microphthalmia,... |
OMIM:153400 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Mild intrauterine growth retardation, Abnormal cardiac septum morpholo... |
OMIM:308050 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension |
ORPHA:110 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... |
OMIM:614294 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Stroke-like episode, Cardiomyopathy,... |
OMIM:212065 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... |
ORPHA:1842 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Horseshoe... |
OMIM:616368 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Renal dysplasia, Abnormal heart morphology |
OMIM:618571 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... |
ORPHA:538 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale |
ORPHA:88630 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... |
ORPHA:485405 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... |
ORPHA:353281 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Proteinuria |
ORPHA:2143 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper... |
OMIM:613159 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormally l... |
ORPHA:2729 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur... |
ORPHA:96121 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Papilla... |
ORPHA:363618 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, Abnormal renal mo... |
OMIM:122470 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Recurrent... |
OMIM:617913 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundum atrial septal defect, Vesic... |
OMIM:619951 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Recurrent lower respiratory tract infections, Multicystic kidney dys... |
OMIM:619774 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Patent ductus arteriosus, Arterial sten... |
ORPHA:1556 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Renal hypoplasia, Pulmonary hyp... |
OMIM:269860 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Enuresis nocturna... |
ORPHA:251061 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter, Dextrocardia |
ORPHA:1571 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Abnormality of the ureter, Hypospadias, Anomalous pulmonary veno... |
ORPHA:2311 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Bdv Syndrome |
|
Atrial septal defect, Micropenis |
OMIM:619326 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:154700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent... |
ORPHA:709 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prola... |
OMIM:309350 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Patent ductus arteriosus, Abnormality... |
ORPHA:30 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Harrod Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Abnor... |
ORPHA:892 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Heart murmur, Perimembranous ve... |
OMIM:158170 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney, Aplasia/Hypoplasia of ... |
ORPHA:1860 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias... |
OMIM:206900 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney |
OMIM:617244 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Atr... |
OMIM:608149 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Horseshoe... |
OMIM:227646 |
Warsaw Breakage Syndrome |
|
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Coarct... |
ORPHA:2308 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... |
ORPHA:1340 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, Patent foramen ovale |
OMIM:619184 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pneumonia, Pericardial effusion, D... |
ORPHA:26793 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst... |
OMIM:117650 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kid... |
OMIM:208500 |
Noonan Syndrome 13 |
|
Atrial septal defect, Duplicated collecting system, Mitral regurgitation, Mitral valve prolapse |
OMIM:619087 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
Cerebrocostomandibular Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Ventricular septal... |
OMIM:270400 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Ventricular septal defect, Ectopic kidney |
OMIM:613309 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Bilate... |
OMIM:617667 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Charge Syndrome |
|
Aortic arch aneurysm, Anophthalmia, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac ... |
ORPHA:138 |
Tetrasomy 9P |
|
Renal dysplasia, Pericarditis, Recurrent urinary tract infections, Juxtaductal coarctation of the... |
ORPHA:3310 |
Joubert Syndrome 2 |
|
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Third degree atrioventricular block, Bradycardia, Atrioventricular canal defe... |
ORPHA:40366 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Penoscrotal transposition, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic ... |
OMIM:619148 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap... |
ORPHA:284979 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormality of the uppe... |
ORPHA:2273 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal lung lobation, Abnormal loca... |
ORPHA:2166 |
Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation,... |
OMIM:270450 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect, Intrauterine growth... |
OMIM:616651 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, Renal cell carcinoma, Multip... |
OMIM:193300 |
Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia, Aortic aneurysm |
OMIM:218340 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... |
ORPHA:363700 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Mody |
|
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Intrauterine growth retardation |
ORPHA:552 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Se... |
OMIM:614114 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Pneumothorax, Mitral valve prolapse, Nephrotic syn... |
OMIM:601776 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Hydronephrosis |
ORPHA:2839 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hy... |
OMIM:309800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Abnormal lung lob... |
OMIM:236680 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Macular hypoplasia, Atr... |
OMIM:147791 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Renal hypoplasia, Pulmonary hypoplasia, Ureteropelvic junction obstr... |
OMIM:618975 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617452 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arte... |
ORPHA:261337 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar occlusion, Vitreous hemorrhage, Retinal arteriolar constriction, Retinal neova... |
OMIM:193220 |
Stromme Syndrome |
|
Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia |
OMIM:243605 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Intrauterine growth retardation |
ORPHA:1352 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Hartsfield Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Tricuspid regurgitation, Epispadias, Dilate... |
ORPHA:2556 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Microphthalmia |
OMIM:616300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis |
OMIM:115150 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmo... |
OMIM:620025 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Recurrent upper respiratory tra... |
ORPHA:1465 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Mitral regurgitation, Tricuspid valve prolapse, Aniridia |
ORPHA:1101 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Vesicoureteral reflux, ... |
ORPHA:453504 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Vesicoureteral reflux, ... |
ORPHA:352665 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis |
ORPHA:541423 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu... |
ORPHA:3015 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos, Mitral valve prolapse |
OMIM:618874 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Vesicoureteral... |
ORPHA:2911 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux |
OMIM:120200 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Renal insufficiency, Patent foramen ovale |
OMIM:251290 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... |
OMIM:619522 |
Distal Deletion 10Q |
|
Patent ductus arteriosus, Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe... |
ORPHA:96148 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney |
OMIM:174300 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... |
ORPHA:857 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ... |
OMIM:117550 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Patent ductus arteriosus, Ascending tubular aort... |
ORPHA:1662 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... |
ORPHA:363958 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Tetr... |
ORPHA:3186 |
19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Recurrent respiratory infections, Hyp... |
ORPHA:217346 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Mitral valve prolapse, Coarctation of aorta, Atrial septal d... |
ORPHA:93932 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Patent ductus arteriosus, Renal hypoplasia, Pulmonary arterial hypertension,... |
OMIM:620005 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Micropenis, Patent ductus arteriosus, Vesicoureteral reflux |
OMIM:609625 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:505237 |
Short Stature-Micrognathia Syndrome |
|
Intrauterine growth retardation, Micropenis, Ventricular septal defect, Penoscrotal hypospadias |
OMIM:617164 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Atrial septal defec... |
OMIM:619869 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis |
OMIM:617093 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Hydronephrosis |
OMIM:302960 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota... |
ORPHA:487796 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Hydronephrosis |
OMIM:101200 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma |
ORPHA:1001 |
Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Micro... |
OMIM:212720 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Hypospa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Hypospa... |
ORPHA:353277 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Severe intrauterine growth retardation... |
ORPHA:3404 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... |
OMIM:616866 |
Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ventricular septal defect, Renal dysplasia, Ureterocele |
ORPHA:1934 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Atrial septal d... |
OMIM:277380 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Hypospadias, Abnormal renal morphology, Conotruncal defect, Mic... |
OMIM:610253 |
White-Sutton Syndrome |
|
Duplicated collecting system, Optic nerve hypoplasia, Patent ductus arteriosus, Atrial septal def... |
OMIM:616364 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis |
OMIM:300661 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Recurrent respiratory infections, Pancreatic cysts, Stage 5 chronic kidney ... |
OMIM:266920 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Renal cortical cysts |
OMIM:211750 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Oligosacchariduria |
ORPHA:397709 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:617635 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral... |
ORPHA:96201 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi... |
OMIM:619268 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... |
OMIM:617300 |
Steinfeld Syndrome |
|
Microphthalmia, Unilateral renal dysplasia, Abnormal heart morphology |
OMIM:184705 |
Monosomy 13Q34 |
|
Epistaxis, Fetal pyelectasis, Hematochezia, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Hypospadias |
OMIM:106260 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Portal hypertension, Ascend... |
OMIM:619503 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Oligosacchariduria |
ORPHA:163649 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Moebius Syndrome |
|
Microphthalmia, Micropenis |
OMIM:157900 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas... |
OMIM:620305 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricula... |
OMIM:617063 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Ventricular septal defect |
ORPHA:251038 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Patent ductus arteriosus, Phthisis bulbi, Macular hypoplasia, Bifid... |
OMIM:267750 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Recurrent pneumonia |
OMIM:214150 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Recurrent urinary tract infections, Ventr... |
ORPHA:261330 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ... |
OMIM:136140 |
Gabriele-De Vries Syndrome |
|
Ebstein anomaly of the tricuspid valve, Intrauterine growth retardation, Ureteropelvic junction o... |
ORPHA:506358 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616268 |
Bohring-Opitz Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Vesicoureteral ... |
OMIM:605039 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal defect, Arrhyt... |
ORPHA:1519 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricul... |
OMIM:612938 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis, Telangiectasia |
ORPHA:247262 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Abnormal heart morphology |
OMIM:610758 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Aortic root aneurysm, Chordee, Atrial septal defect, Intrauterine growth retardation |
OMIM:618891 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Non-acidotic proximal tubulopathy, Ventricular septal defect, Proteinuria |
OMIM:222448 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Mitral valve calcification, Spontaneous pneumothorax, Congestive hea... |
ORPHA:558 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Atele... |
OMIM:188400 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria... |
OMIM:309500 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal... |
ORPHA:1606 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... |
OMIM:617402 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce... |
OMIM:610168 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hypospadias, Ventricular septal defect, Galactosuria, Pulmonic stenosis, In... |
OMIM:222470 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Anophthalmia, Pulmonary hypoplasia, Renal cyst |
OMIM:615636 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Epispadias, Common atrium, Hypospadias |
OMIM:225500 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic... |
OMIM:616580 |
Al Kaissi Syndrome |
|
Atrial septal defect, Intrauterine growth retardation |
OMIM:617694 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Patent ductus arteriosus, Recurrent pneumonia, Renal cyst, Hypertension, Atr... |
OMIM:613610 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pn... |
OMIM:607143 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Respiratory tract infection, Patent ductus arteriosus, Re... |
OMIM:180849 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial septal defect, In... |
ORPHA:769 |
Aredyld Syndrome |
|
Intrauterine growth retardation, Abnormality of the ureter |
ORPHA:1133 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... |
ORPHA:2162 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargement, Hypospadi... |
OMIM:619991 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca... |
ORPHA:99880 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Abnormal lung lobation, Renal c... |
OMIM:312870 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy |
OMIM:619383 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Abnormal mitral valve morphology |
ORPHA:1292 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Micropenis |
OMIM:615663 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Hypospadias, Congestive heart failure |
ORPHA:2505 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Pulmonary hypoplasia, Intrauterine gro... |
OMIM:617022 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca... |
ORPHA:143 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Ventricular septal defect, Micropenis, Coarctation of aorta, Atrial ... |
OMIM:147920 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Atrial septal defect, Intrauterine growth retardation, Patent foramen... |
OMIM:619488 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal ... |
OMIM:275210 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Intrauterine gro... |
ORPHA:261279 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Intrauterine growth retardation, Hydronephrosis |
ORPHA:254528 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Micropenis, Severe intrauterine growth retardation |
OMIM:241410 |
Ververi-Brady Syndrome |
|
Intrauterine growth retardation, Transposition of the great arteries |
OMIM:617982 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Rectourethral fistula, Congenital posterior urethral valv... |
OMIM:300000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micropenis, Ventricular septal defect |
OMIM:620073 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Cohen Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology |
ORPHA:1826 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Abnormal renal morphology |
OMIM:207410 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hypertension, H... |
ORPHA:2750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Pulmonary hypoplasia, Microphthalmia, Int... |
ORPHA:3412 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve prolapse, Aortic root a... |
OMIM:245600 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of... |
ORPHA:821 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnorma... |
ORPHA:798 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Ectopic ki... |
OMIM:164210 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... |
OMIM:607872 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ... |
OMIM:300373 |
Cousin Syndrome |
|
Microphthalmia, Hydronephrosis |
OMIM:260660 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Bladder diverticulum, Hydronephrosis, Carotid arte... |
OMIM:304150 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Recurrent pneumonia, Bronchiecta... |
OMIM:251260 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:1190 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:447980 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Bladder diverticulum, Mitral re... |
ORPHA:287 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Pulmonary hypoplasia, Microphthalmia, Micropenis, Tetralo... |
OMIM:617925 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617360 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... |
OMIM:251300 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect, Patent foramen ovale, Micropenis |
OMIM:613884 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias |
ORPHA:96097 |
Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Hypospadias, Patent... |
ORPHA:955 |
Beckwith-Wiedemann Syndrome |
|
Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicouret... |
OMIM:130650 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Micropenis |
OMIM:614222 |
Hyperlysinemia |
|
Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery hypoplasia, Decreased urine alpha-... |
ORPHA:2203 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:202650 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Epi... |
ORPHA:293939 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis,... |
OMIM:620185 |
Monosomy 18P |
|
Microphthalmia, Hypertension |
ORPHA:1598 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis |
ORPHA:847 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, A... |
OMIM:130720 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defec... |
ORPHA:508488 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus |
OMIM:605130 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defe... |
OMIM:606170 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect, Pulmonary hypoplasia, Intrauterine growth retardation, ... |
ORPHA:83617 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Mitral regurgitation, Pul... |
OMIM:277600 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
ORPHA:1790 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis,... |
OMIM:607721 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... |
OMIM:615582 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Micropenis, Right bundle branch ... |
OMIM:617403 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Interrupted inferior vena cava with azygous continuation, Anophthalmia |
OMIM:206920 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal hyp... |
OMIM:261540 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:3255 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension |
ORPHA:1454 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Renal agenesis, Ventricular septal defect, Hypospadias, Horseshoe kidney, ... |
ORPHA:124 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:899 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve pr... |
OMIM:618371 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Hypospadias, Abnormal renal collecting system morphology, Paten... |
ORPHA:17 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:271520 |
Trisomy 10P |
|
Intrauterine growth retardation, Multiple renal cysts, Abnormality of the kidney, Abnormal heart ... |
ORPHA:171929 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux, Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen... |
OMIM:618076 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial septal defect, Mic... |
OMIM:609945 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral r... |
OMIM:617140 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Macular hypoplasia, Right atrial enlargement |
OMIM:615219 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hype... |
ORPHA:3472 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Lacticaciduria, Methylmalonic aciduria, Gene... |
ORPHA:506 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections |
OMIM:620194 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Transposition of the great a... |
OMIM:256520 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Functional abnormality of the b... |
ORPHA:391487 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Lacticaciduria, Renal cyst, Abn... |
ORPHA:699 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia, Arrhythmia |
ORPHA:3138 |
Alg12-Cdg |
|
Recurrent respiratory infections, Hypospadias, Recurrent pharyngitis, Muscular ventricular septal... |
ORPHA:79324 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Intrauterine growth retardation |
OMIM:620183 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:228390 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Microphthalmia, Micropenis, Intrauterine growth reta... |
OMIM:614083 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins |
OMIM:610682 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Microphthalmia, Neurogenic bladder, Arrhythmia |
OMIM:164200 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Mitral regurgitation, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:620244 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Hypospadias, Ureterocele |
OMIM:616734 |
Vici Syndrome |
|
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:242840 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel... |
ORPHA:261552 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Micropenis, Proteinuria |
OMIM:619471 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Urinary... |
ORPHA:261537 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:614225 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Congestive heart failure, Patent duc... |
ORPHA:354 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Glandular hypospadias |
ORPHA:1439 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Renal tubular acidosis, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Microphthalmia, Micropenis, Patent foramen ovale, Intrauterine growth retardation |
OMIM:263650 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Horseshoe kidney, Telangiectasia, Aniridia, Microphthalmia, B... |
OMIM:305600 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... |
OMIM:300472 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Aortic regurgitation |
OMIM:609460 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:251014 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Micropenis, Hydron... |
OMIM:268310 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Patent foramen ovale, Renal dysplasia |
OMIM:300990 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Dubowitz Syndrome |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
ORPHA:235 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel... |
ORPHA:2152 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Intrauterine growth retardation, Micropenis |
OMIM:620076 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Esophageal Atresia |
|
Recurrent respiratory infections, Renal agenesis, Ventricular septal defect, Bronchitis, Coarctat... |
ORPHA:1199 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi... |
OMIM:614437 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Peripheral pulmonary vessel aplasia, Urethral atresia, Pulmonary hypoplasia, Micr... |
OMIM:273395 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Atelectasis, ... |
ORPHA:534 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Mogs-Cdg |
|
Atrial septal defect, Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly |
ORPHA:79330 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Hematochezia, Congenital pulmonary a... |
OMIM:243150 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Optic nerve hypoplasia, Recurrent pneumonia, Hydronephrosis, Recurrent... |
OMIM:620330 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Abnormality of th... |
ORPHA:280 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:261250 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Bilateral fetal pyelectasis, Patent ductus arteriosus, Vesicoureter... |
OMIM:300868 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... |
ORPHA:2962 |
Monosomy 9Q22.3 |
|
Microphthalmia, Nephroblastoma, Cardiac fibroma |
ORPHA:77301 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Recurrent infections due to aspiration, Bradycardia, Recurrent aspiration p... |
ORPHA:70 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Portal hypertension, Situs invers... |
OMIM:243800 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Campomelic Dysplasia |
|
Hypospadias, Recurrent upper respiratory tract infections, Abnormal heart morphology, Recurrent l... |
OMIM:114290 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Heart murmur, Mitral valve ... |
OMIM:615873 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary arterial hype... |
ORPHA:2785 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:284160 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... |
ORPHA:672 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Congestive heart failure, Patent ductus arteriosus, Horse... |
ORPHA:444077 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Recurrent sinusitis, Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:213980 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Recurrent respiratory infections, Abnormal atrioventricular valve physiolog... |
ORPHA:576 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Micropenis |
ORPHA:398069 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis, Single ventricle |
OMIM:236100 |
Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Recurrent urinary tract infections, Ventricular septal defect, R... |
OMIM:619229 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Recurrent upper respiratory tract infections |
ORPHA:2399 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Microspherophakia,... |
OMIM:608328 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Recurrent urinary tract infections, Optic disc hypoplasia, Hypospadias, Co... |
ORPHA:3455 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic ste... |
OMIM:218040 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Lymphatic Malformation 6 |
|
Varicose veins, Pleural effusion, Chylothorax, Atrial septal defect, Intestinal lymphangiectasia |
OMIM:616843 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Hypospadias, Optic nerve hypoplasia, Renal cyst |
ORPHA:495875 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis |
OMIM:614230 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Hypertension, Atrial septal defect, Intrauterine growth retardation, Urete... |
OMIM:300896 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial ... |
ORPHA:480880 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Recurrent upper resp... |
OMIM:602535 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Noonan Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chylothor... |
OMIM:163950 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Hypospadias |
OMIM:618846 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... |
OMIM:300989 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormality of the ureter |
ORPHA:3253 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Abnormality of the kidney, Patent ductus arteriosus, Abnormal h... |
ORPHA:177907 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia |
OMIM:601559 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Microphthalmia, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:251230 |
Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Epispadias, Patent ductus arteriosus, Unilateral renal hypoplasia, Atr... |
OMIM:615948 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:618162 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micropenis, Ventricular septal defect |
ORPHA:251028 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Pulmonary arterial hypertension, Atrial septal defect, Micropht... |
OMIM:620186 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High uri... |
ORPHA:99413 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Recurrent urinary tract infections, Ventricular septal defect, Abnormal pul... |
ORPHA:268261 |
Mosaic Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High uri... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High uri... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High uri... |
ORPHA:881 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Recurrent upper a... |
ORPHA:79329 |
Larsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy, Intrauterine growth re... |
OMIM:608670 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Melena, Hematoc... |
ORPHA:79076 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Recurrent respiratory infections |
ORPHA:1806 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperec... |
ORPHA:397715 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Distal Deletion 6P |
|
Hypoplasia of the iris, Atrial septal defect |
ORPHA:96125 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia, Intrauteri... |
OMIM:614653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia |
OMIM:236670 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... |
ORPHA:468631 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Fetal pyelectasis, Dilation of Virchow-Robin spaces |
OMIM:619512 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chylothorax, Atrial septal defect, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Abnormal lung lobat... |
ORPHA:2052 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Micropenis |
OMIM:300895 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
OMIM:154400 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:2250 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Hypoplasia of the iris, Hypertension, Arrhythmia, Microphthalmi... |
OMIM:133540 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Optic nerve hypoplasia, Ascending tubular... |
ORPHA:536471 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Focal segmental glomerulosclero... |
OMIM:619127 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Optic nerve hypoplasia, Bilateral renal dysp... |
ORPHA:500150 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Recurrent u... |
OMIM:308205 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Corneal neovas... |
ORPHA:2363 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intraut... |
OMIM:610505 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Hypospadias, Intrauterine growth retardation |
OMIM:223370 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Ctcf-Related Neurodevelopmental Disorder |
|
Phimosis, Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal def... |
ORPHA:363611 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Patent fo... |
OMIM:617137 |
Proteus Syndrome |
|
Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Long penis, Abnormal lung ... |
ORPHA:744 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Hypospadias, Hydronephrosis, Dilatation of the sinus of Valsalva |
OMIM:304120 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Intestinal bleeding, Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Third degree a... |
OMIM:619573 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect, Optic disc hypoplasia |
OMIM:619306 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
Trichothiodystrophy |
|
Ventricular septal defect, Recurrent bronchopulmonary infections, Bilateral microphthalmos, Cardi... |
ORPHA:33364 |
Limb Body Wall Complex |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal heart morphology, Atrial septal de... |
ORPHA:2369 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
Frontonasal Dysplasia 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:613451 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Fraser Syndrome 1 |
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Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... |
OMIM:219000 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, ... |
ORPHA:93271 |
Mend Syndrome |
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Microphthalmia, Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Recurrent pneumonia, Telangiectasia, Hypertension, Pulmonary ar... |
OMIM:234100 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Telangiectasia |
OMIM:601675 |
Mesomelia-Synostoses Syndrome |
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Hydronephrosis |
OMIM:600383 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Tetralogy of Fallot |
ORPHA:306542 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Recurrent urinary tract infections, Hypospadias, Crossed fused renal ectop... |
OMIM:619841 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... |
ORPHA:3047 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Microphthalmia, Hypoplasia of penis |
ORPHA:861 |
Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Varicose veins, Ascending tub... |
ORPHA:286 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transpos... |
OMIM:614976 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ventricular septal defect, Arrhythmia |
ORPHA:2710 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Prominent superficial veins |
OMIM:601812 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Proteinuria |
OMIM:616682 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Monosomy 9P |
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Microphthalmia, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Severe intrauterine growth retardation, Optic nerve hypoplasia |
OMIM:609069 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation |
OMIM:620072 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Atrial septal defect, Intrauterine growth retardation, Partial anomalous pulmonary venous return,... |
OMIM:301044 |
Persistent Hyperplastic Primary Vitreous |
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Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype... |
ORPHA:464 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Right ventricular outlet tract obstruction, Renal duplication |
OMIM:180700 |
Schwartz-Jampel Syndrome |
|
Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Pulmonary arterial... |
ORPHA:800 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia, Intrauterine growth retard... |
OMIM:113620 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Chordee, Patent foramen ovale, Hypospadias |
ORPHA:477993 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Tetra... |
OMIM:619525 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Intrauterine gro... |
OMIM:616145 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Micropenis, Hypospadias |
OMIM:603457 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Holoprosencephaly 9 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:364577 |
Pseudoaminopterin Syndrome |
|
Patent foramen ovale, Horseshoe kidney |
ORPHA:221120 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Congestive h... |
OMIM:619475 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Hypospadias, Atrial septal defect, Intrauterine growth... |
OMIM:194190 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus, Chalazion, Pulmon... |
OMIM:613355 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary airway malformation |
ORPHA:436252 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Homocystinuria |
OMIM:601552 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Heart murmur, Horseshoe kidney, Tetralogy of Fallot, Patent foramen ovale |
OMIM:619325 |
C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage |
OMIM:308300 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aort... |
OMIM:601803 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Orofaciodigital Syndrome Type 14 |
|
Epispadias, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Secundum atrial septal defect, Subarterial ventricular septal defect, ... |
ORPHA:99646 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Multiple pulmonary cysts, Ventricular septal defect |
OMIM:619418 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect, Increased axial length of the globe |
ORPHA:513456 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Telangiectasia |
OMIM:268400 |
Craniotubular Dysplasia, Ikegawa Type |
|
Phthisis bulbi, Ventricular septal defect |
OMIM:619727 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Congestive heart failure |
ORPHA:2108 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Patent foramen ovale |
OMIM:619539 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Phimosis, Intracranial hemorrhage, Male urethral meatus stenosis, Microphallus, Micr... |
OMIM:613406 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Aicardi Syndrome |
|
Microphthalmia, Recurrent pneumonia |
OMIM:304050 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Holoprosencephaly 2 |
|
Microphthalmia, Single ventricle |
OMIM:157170 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Renal hypoplasia |
OMIM:607932 |
Ulnar-Mammary Syndrome |
|
Micropenis, Ventricular septal defect, Arrhythmia |
OMIM:181450 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Monosomy 13Q14 |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Pmm2-Cdg |
|
Pericarditis, Proteinuria, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Nephro... |
ORPHA:79318 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmo... |
OMIM:216340 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Venous insufficiency |
ORPHA:649 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Intrauterine growth retardation, Bilateral microphthalmos |
ORPHA:93325 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |