banner
Genes Phenotypes Help, News, Blog

Gene: Cntrl MGI:1889576

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
centriolin
Synonyms:
Ma2a8,  IB3/5,  Cep1,  b2b1468Clo,  Cep110,  6720467O09Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cntrl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cntrl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
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
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, ... ORPHA:93271
Mend Syndrome
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
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
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
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
Atrial septal defect, Intrauterine growth retardation, Partial anomalous pulmonary venous return,... OMIM:301044
Persistent Hyperplastic Primary Vitreous
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cntrl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cntrl.

No publications found that use IMPC mice or data for Cntrl.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter