Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Hypoplastic... |
OMIM:220210 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
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 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Mungan Syndrome |
|
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis |
OMIM:611376 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Spinal ... |
ORPHA:1926 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias |
OMIM:615542 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, At... |
OMIM:611134 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c... |
ORPHA:1166 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ... |
OMIM:173900 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
OMIM:600001 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Joubert Syndrome 15 |
|
Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology |
OMIM:613390 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri... |
OMIM:617877 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Nephronophthisis |
OMIM:614465 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Polycystic kidney dysplasia, Hypere... |
OMIM:613885 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... |
ORPHA:1727 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Horseshoe kidney, Atrial septal... |
OMIM:614846 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Recurr... |
ORPHA:2970 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... |
ORPHA:477817 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu... |
OMIM:314390 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Atrial ... |
OMIM:618316 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias |
ORPHA:1919 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Hydrocephalus, Tubular luminal dilatation, Renal ... |
OMIM:219730 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Hydronephrosis, Pulmonic stenosis |
OMIM:620141 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney |
OMIM:613630 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata... |
OMIM:611773 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,... |
OMIM:601186 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Verheij Syndrome |
|
Branchial cyst, Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus ... |
OMIM:615583 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept... |
OMIM:158170 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Renal agenesis... |
ORPHA:508498 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a... |
ORPHA:2209 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of th... |
ORPHA:2437 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Perimembranous ventricular septal defect,... |
OMIM:301040 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse... |
OMIM:115470 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hydrocephalus, Renal tubular dysfunction, Atrial septal defect, Double ... |
OMIM:614886 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, M... |
OMIM:301056 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular... |
OMIM:264480 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... |
ORPHA:244 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... |
OMIM:612946 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenos... |
OMIM:615415 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Neurogenic bladder, Perimembranous ventricular septal defect, Hydr... |
OMIM:608779 |
3C Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Hy... |
ORPHA:7 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Pelv... |
OMIM:613001 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma... |
ORPHA:2184 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Renal cyst |
OMIM:611561 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hydrocephalus, ... |
ORPHA:261290 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, Po... |
ORPHA:371428 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Joubert Syndrome 7 |
|
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr... |
ORPHA:1780 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi... |
ORPHA:2326 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... |
ORPHA:391641 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Renal cyst |
OMIM:603194 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy... |
ORPHA:3378 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... |
OMIM:267010 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... |
ORPHA:107 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus,... |
ORPHA:261344 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, Umbilical hernia, Ureteral tripli... |
OMIM:104350 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Renal cyst, Intracranial he... |
OMIM:614424 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:618950 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Tetralogy of Fallot, Hypospadias |
ORPHA:1381 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Perimembranous ventricular septal defect, Semilobar holoprosencephaly |
OMIM:618651 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal age... |
ORPHA:1335 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Polycystic kidney dysplasia |
OMIM:614859 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Micropenis |
OMIM:614175 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect,... |
ORPHA:99776 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition ... |
OMIM:313850 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Renal dysplasia |
OMIM:236500 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Transposi... |
OMIM:201000 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis |
OMIM:222300 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos... |
ORPHA:261494 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:610733 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... |
OMIM:614922 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Spina... |
OMIM:300707 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia |
OMIM:608776 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease |
ORPHA:1667 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... |
ORPHA:2461 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:3079 |
Ogden Syndrome |
|
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atri... |
OMIM:300855 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Ren... |
ORPHA:139466 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta, Hydronephrosis |
OMIM:618060 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc... |
ORPHA:1393 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ... |
ORPHA:163956 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney... |
OMIM:235510 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... |
ORPHA:49 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Ventricular septal defect, Hypospadias, Renal agenesis,... |
OMIM:192350 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Spina bifida, Patent ductus arteriosus, Mitral valve prol... |
OMIM:180849 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... |
OMIM:612284 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... |
OMIM:607323 |
Zaki Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus |
OMIM:607361 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hypospadias, Hydrocephalus |
ORPHA:2075 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat... |
OMIM:220500 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... |
ORPHA:2237 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Umbilical hernia, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... |
ORPHA:1596 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept... |
ORPHA:2059 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:2315 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Meningocele, Renal cyst |
ORPHA:2031 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Situs inversus totalis, Pancreatic cysts, Patent ductus arter... |
OMIM:208540 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis, Umbilical hernia |
ORPHA:2241 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Hydrocephalus, Red-brown urine, Renal t... |
ORPHA:228308 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis |
OMIM:619217 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias |
ORPHA:912 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Double outlet right ... |
ORPHA:397 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers... |
ORPHA:991 |
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 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... |
OMIM:608836 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis |
OMIM:311900 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal cardiac septum morphology, Ves... |
ORPHA:96169 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... |
OMIM:301043 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph... |
OMIM:235255 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hydronephrosis, Hypospadias |
OMIM:616449 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:2484 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Abnormality of the urinary system, Micropenis, Tetralogy... |
ORPHA:96092 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453499 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, ... |
ORPHA:2092 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... |
OMIM:618454 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Myelomeningoce... |
ORPHA:90652 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Interrupted aortic a... |
ORPHA:250989 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... |
OMIM:617107 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta, Hydronephr... |
OMIM:614921 |
Genitopatellar Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct... |
OMIM:610443 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... |
ORPHA:261197 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lymp... |
ORPHA:1655 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Hydrocephalus, Renal cyst, Pulmonic st... |
OMIM:257300 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... |
OMIM:614080 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Cystic Echinococcosis |
|
Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aorta, Pulmonary arte... |
ORPHA:1692 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Lymphangiectasis, Renal cyst |
OMIM:602579 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... |
ORPHA:411709 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Perimembranous ventricular septal defect, Hydronephrosis |
ORPHA:83617 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphol... |
OMIM:616737 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... |
ORPHA:2847 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... |
OMIM:272950 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Intracranial hem... |
ORPHA:163979 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Abnormal... |
ORPHA:2745 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Atrial... |
OMIM:300712 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... |
ORPHA:464311 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab... |
ORPHA:251071 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Atrial septal defect, Occipital meningoc... |
OMIM:616546 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Abnormality of the ureter, Abnormal localiz... |
ORPHA:261318 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Mitral valve prol... |
OMIM:151100 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... |
ORPHA:1225 |
Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Spina bifida, Anencephaly, Hol... |
ORPHA:3380 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid... |
OMIM:612562 |
Femoral-Facial Syndrome |
|
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,... |
OMIM:113650 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Spina bifida occulta, ... |
OMIM:257920 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g... |
ORPHA:3474 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... |
ORPHA:79403 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida |
ORPHA:2839 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Functional abnormality of the bladder, Nephrolithiasis, Horsesho... |
ORPHA:2953 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Mesomelia-Synostoses Syndrome |
|
Umbilical hernia, Hydronephrosis |
ORPHA:2496 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Fetal pyelectasis, Hydrocephalus, Abnormal left ventricle m... |
ORPHA:264450 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... |
ORPHA:2306 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Ren... |
OMIM:214100 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... |
OMIM:611209 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly |
ORPHA:2211 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic... |
ORPHA:444072 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation o... |
ORPHA:97360 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac... |
ORPHA:26791 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis... |
ORPHA:369837 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... |
ORPHA:464306 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Left superior vena cava dr... |
ORPHA:464738 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur... |
ORPHA:2331 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Pulmonary artery atresia, Renal agenesis, Secundum a... |
OMIM:214800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
ORPHA:2255 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Patent ductus arteriosus, Renal dysplasia, Hydronephrosis |
OMIM:300968 |
Syndromic Diarrhea |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn... |
ORPHA:84064 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Recurrent urinary tract infections, Secundum atrial... |
OMIM:612541 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Aortopulmonary collater... |
OMIM:617557 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Stroke-like episode, Cardiomyopathy,... |
OMIM:212065 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Hydr... |
ORPHA:96121 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... |
ORPHA:158684 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... |
OMIM:600460 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:214110 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Renal hypoplasia... |
OMIM:269860 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Pericar... |
ORPHA:79328 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Ventricular septal defect, Recurrent... |
OMIM:301068 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertro... |
ORPHA:1340 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti... |
OMIM:300166 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... |
ORPHA:280633 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card... |
ORPHA:96147 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep... |
OMIM:618653 |
Tarp Syndrome |
|
Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, ... |
ORPHA:2886 |
Tuberous Sclerosis 1 |
|
Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... |
OMIM:191100 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cor pulmonale, Hydronephrosis, Mitral valve prolapse |
OMIM:305620 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial ... |
ORPHA:449395 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta... |
ORPHA:2044 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Abnormal aortic valve morphology, ... |
ORPHA:35687 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Umbilical hernia, Patent fora... |
OMIM:613177 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Hydrocephalus, Renal cyst, Nephronophthisis |
OMIM:608091 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Stroke-like episode, Polycyst... |
ORPHA:137675 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Abnormal cardiac septum morphology, Umbilical hernia, Hydronephrosis, ... |
OMIM:308050 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Coarctation of aorta, Hypo... |
ORPHA:2308 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Renal cyst, Poly... |
OMIM:102500 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis |
OMIM:115150 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Aqueductal stenosis |
ORPHA:93260 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... |
OMIM:606232 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... |
OMIM:613254 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363958 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mye... |
OMIM:258040 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... |
OMIM:118450 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec... |
OMIM:617063 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de... |
OMIM:614866 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... |
ORPHA:90324 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab... |
ORPHA:363700 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology... |
ORPHA:464329 |
Apert Syndrome |
|
Hydrocephalus, Overriding aorta, Ventricular septal defect, Hydronephrosis |
OMIM:101200 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat... |
ORPHA:284 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, ... |
ORPHA:508488 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V... |
OMIM:122470 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus... |
OMIM:615287 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Microgastria-Limb Reduction Defect Syndrome |
|
Crossed fused renal ectopia, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplas... |
ORPHA:2538 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Anencephaly, Seve... |
OMIM:236680 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Urinary incontinence |
ORPHA:476126 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Nephroblasto... |
ORPHA:314585 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:353281 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Spina ... |
ORPHA:567 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricula... |
ORPHA:818 |
Distal Deletion 12Q |
|
Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki... |
ORPHA:96149 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Ventricular septal... |
OMIM:270400 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:373 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma |
ORPHA:1001 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:352665 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hepatic cysts, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Abnormal heart mor... |
OMIM:311200 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Tricuspid stenosis, Pulmonic stenosis |
ORPHA:100078 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota... |
ORPHA:487796 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst... |
OMIM:117650 |
Tetrasomy 9P |
|
Renal dysplasia, Pericarditis, Juxtaductal coarctation of the aorta, Recurrent urinary tract infe... |
ORPHA:3310 |
Lymphangioleiomyomatosis |