Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Renal cyst, Right aortic a... OMIM:231060
Alagille Syndrome 2
Hypertension, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... OMIM:610205
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... OMIM:615382
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Supravalvular ao... ORPHA:1461
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Cardiac Valvular Defect, Developmental
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Mitral stenosis, Tricu... OMIM:212093
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... OMIM:618845
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Prune Belly Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormality of the ureter, Congenital... ORPHA:2970
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral valve prolapse, Mitral regurgitation, Cerebral berry aneurysm, Hepatic cysts... OMIM:173900
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Thymic Aplasia With Fetal Death
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus, Renal agenesis OMIM:274210
Feingold Syndrome Type 1
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Tricuspid stenosis,... ORPHA:391641
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... ORPHA:1909
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Patent ductus arteriosus, Abnormality of the upper urinary tract, Hy... ORPHA:2547
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Ventricular septal defect, Intrauterine growth retardation, Atrial septal defec... ORPHA:75389
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydronephrosis, Microphthalmia, Peripheral pulmonary artery stenosis, ... OMIM:613001
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Abnormal heart morphology, P... OMIM:100100
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Hydroureter, Pulmonic stenosis OMIM:616559
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Tubular Dysgenesis
Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Nephropathy, Renotubular dysgene... ORPHA:3033
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Hypertension, Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease... OMIM:613095
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine growth retardation, Double o... OMIM:220210
2p15-16.1 microdeletion syndrome
Optic disc hypoplasia, Hydronephrosis DECIPHER:70
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Tran... ORPHA:1926
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Recurrent respiratory infections, Ren... OMIM:615993
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Vascular dilatation, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Polycystic kidney dysplasia, Dilatation of the cerebral artery OMIM:600666
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Renal agenesis, Intrauterine growth retardation, Bilatera... OMIM:611812
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Bilateral lung agenesis, Ventricu... OMIM:601186
Ileal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Arterial occlusion, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Arterial occlusion, ... ORPHA:100077
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Micropenis, Tetralogy of Fallot, Microphallus OMIM:615542
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Renal cyst OMIM:228940
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Int... OMIM:600001
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:1166
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalig... OMIM:265380
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Intrauterine growth retardation, Renal agenesis, Ureteral dysgenesis OMIM:274265
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, ... OMIM:618316
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Hypospadias, Abnormal aortic morphology, Intrauterine growth retarda... ORPHA:251071
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Patent ductus arteriosu... OMIM:179613
Hadziselimovic Syndrome
Renal hypoplasia, Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetra... OMIM:612946
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Kleefstra Syndrome
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Coarctation of aor... ORPHA:261494
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Duodenal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Palpitations, Melena, Pulmonic ste... ORPHA:100076
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Pancreatic cysts, Renal dysplasia, Hepatic cysts, Patent ductus arteriosus,... OMIM:208540
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Abnormal heart morphology, Pat... ORPHA:314588
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Diamond-Blackfan Anemia 1
Renal hypoplasia, Ventricular septal defect, Intrauterine growth retardation, Tricuspid stenosis,... OMIM:105650
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Alagille Syndrome
Hypertension, Ventricular septal defect, Abnormality of the ureter, Intrauterine growth retardati... ORPHA:52
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent ... ORPHA:85202
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Intrauterine growth ret... ORPHA:2255
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, E... ORPHA:401935
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Geleophysic Dysplasia 2
Mitral valve prolapse, Tricuspid stenosis, Mitral regurgitation, Pulmonary arterial hypertension,... OMIM:614185
Heterotaxy, Visceral, 5, Autosomal
Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal defect, Intrauterine... OMIM:270100
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Pulmonary hypoplasia, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis,... OMIM:263200
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Pel... OMIM:300707
Autosomal Recessive Cutis Laxa Type 1
Abnormal systemic arterial morphology, Abnormal cardiac ventricular function, Intrauterine growth... ORPHA:90349
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Emphysema, Vascular dilatation, Pulmonary artery stenosis, Pulmonary hypoplasia, ... OMIM:613177
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia, Intrauterine growth retardation, Abnormal localization of kidney,... ORPHA:195
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Horseshoe kidney, Renal agenesis, Mitral atresia, Aortic regurgitation, Abnormal cardiac septum m... ORPHA:140952
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Ur... ORPHA:49
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Hematuria, Renal cyst, Raynaud ... OMIM:611773
Cystic Hamartoma Of Lung And Kidney
Hypertension, Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, Pulmonary valve... OMIM:301030
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... OMIM:617478
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Mitral atresia, Double... OMIM:306955
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Hepatic cysts, Renal cyst OMIM:263630
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Renal cy... OMIM:611134
Wolfram Syndrome 1
Hydronephrosis, Hydroureter, Cardiomyopathy, Neurogenic bladder OMIM:222300
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Macdermot-Winter Syndrome
Hydronephrosis, Intrauterine growth retardation OMIM:247990
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Codas Syndrome
Ventricular septal defect, Hydroureter ORPHA:1458
Recombinant 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... ORPHA:96167
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Carpenter Syndrome 1
Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus, Pulmonic stenosis, Transposi... OMIM:201000
Trisomy 17P
Urethral valve, Hydronephrosis, Intrauterine growth retardation, Hypoplasia of penis, Urethral st... ORPHA:261290
Ellis Van Creveld Syndrome
Dextrocardia, Hypospadias, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormalit... ORPHA:289
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect, Intrauterine growth retardation OMIM:614815
Trisomy 13
Ventricular septal defect, Abnormality of the ureter, Microphthalmia, Hydronephrosis, Intrauterin... ORPHA:3378
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Renal hypoplasia, Intrauterine growth retardati... ORPHA:84064
Eng-Strom Syndrome
Ventricular septal defect, Intrauterine growth retardation, Abnormal cardiac septum morphology ORPHA:1937
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Pulmonary hypop... OMIM:615524
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Pallister-Hall Syndrome
Renal hypoplasia, Ventricular septal defect, Hydronephrosis, Microphthalmia, Intrauterine growth ... OMIM:146510
Renal Hypoplasia
Hypertension, Hydronephrosis, Abnormality of the ureter, Urethral valve, Pelvic kidney, Glomerulo... ORPHA:93101
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right... ORPHA:163956
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... ORPHA:99050
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis OMIM:601355
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Hydroureter OMIM:616367
Trisomy 1Q
Ventricular septal defect, Hydronephrosis, Anophthalmia, Congenital megaureter, Patent ductus art... ORPHA:261344
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Hypertension, Mitral valve prolapse, Pancreatic cysts, Aor... ORPHA:730
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux OMIM:601450
Atresia Of Urethra
Pulmonary insufficiency, Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fis... ORPHA:105
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Respiratory infections in early life OMIM:248110
Mmep Syndrome
Ventricular septal defect, Microphthalmia ORPHA:3434
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Hydronephrosis, Peripheral pulmonary artery stenosis, Duplicated colle... OMIM:280000
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Renal agenesis, Mitral regurgitation, Double out... ORPHA:2326
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... ORPHA:99125
Hyperphosphatasia With Mental Retardation Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Vesicoureteral reflux OMIM:614749
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Ventricular septal defect, Renal agenesis, Hydronephrosis, Abnormal pe... ORPHA:2461
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Glomerulonephritis, S... OMIM:613496
Oculofaciocardiodental Syndrome
Microphthalmia, Mitral valve prolapse, Peripheral pulmonary artery stenosis, Patent ductus arteri... ORPHA:2712
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Atrioventricular cana... OMIM:600123
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Transposition of the great arter... OMIM:314390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Renal cyst, Vascular dilatat... OMIM:617056
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Intrauterine growth retardation OMIM:617093
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Czeizel-Losonci Syndrome
Dextrocardia, Hydronephrosis, Myelomeningocele, Abnormality of the urinary system, Congenital meg... ORPHA:2437
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, Pu... OMIM:300998
Frontometaphyseal Dysplasia 1
Cor pulmonale, Hydronephrosis, Hydroureter, Mitral valve prolapse OMIM:305620
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Ureteral duplication, Hydronephrosis, Antenatal intracerebral hemorrhage,... OMIM:608836
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Alagille Syndrome 1
Renal hypoplasia, Ventricular septal defect, Focal segmental glomerulosclerosis, Peripheral pulmo... OMIM:118450
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis ORPHA:2241
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Intrauterine growth retardation, Transposition of the gre... ORPHA:1913
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... ORPHA:2973
Arterial Tortuosity Syndrome
Hypertension, Ischemic stroke, Ventricular hypertrophy, Aortic regurgitation, Aortic tortuosity, ... OMIM:208050
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Truncus arteriosus, Pulmonary hypoplasia, Si... OMIM:615415
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Vascular dilatation, Multiple renal cysts ORPHA:2924
Transketolase Deficiency
Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus arteriosus, Atria... ORPHA:488618
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia, Cardiogenic shock ORPHA:276432
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Pulmonary arterial hype... OMIM:608406
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Urethral stenosis, Displaceme... ORPHA:1727
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Microphthalmia, Pulmonary arteria... OMIM:100300
Renal Agenesis
Hypertension, Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine growth retardation, Double o... OMIM:301056
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Atrioventricular canal defect, ... ORPHA:210122
Meacham Syndrome
Horseshoe kidney, Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs,... ORPHA:3097
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst, Abnormal cardiac septum morphology OMIM:615583
Image Syndrome
Hypospadias, Hydronephrosis, Intrauterine growth retardation ORPHA:85173
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular septal defect, Tricuspid stenosis, Mitral regurgitation, Ventricular hypertrophy, Aor... OMIM:143095
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Hypospadias ORPHA:435938
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Patent for... OMIM:619189
Geleophysic Dysplasia 1
Congestive heart failure, Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis OMIM:231050
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Microphthalmia, Cardiomegaly, Patent ductus arteriosus, Tricuspid regu... OMIM:618652
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microphthalmia ORPHA:3469
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmo... OMIM:239711
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Orthostatic hypotension, Recurrent urinary tract infections, Stage 2... OMIM:191800
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal localization of kidney, Abnormal cardiac septum morphology, M... ORPHA:83473
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Micropenis,... OMIM:618142
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomegal... ORPHA:228308
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Intrau... ORPHA:2516
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Hardikar Syndrome
Hypertension, Ventricular septal defect, Hydronephrosis, Hydroureter, Hematemesis, Coarctation of... OMIM:301068
Maternal Phenylketonuria
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Abnorm... ORPHA:2209
Mckusick-Kaufman Syndrome
Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus, Urogenital sinus anomaly, Re... ORPHA:2473
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation, Portal ... OMIM:616589
Tetraploidy
Hydronephrosis, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Renal hypoplasi... ORPHA:3305
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Polycystic kidney dysplasia, Intrauterine growth retardation, Aminoaci... OMIM:214110
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Patent ductus arteriosu... ORPHA:79345
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Vesicoureteral reflux ORPHA:228399
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Portal hypertension, Megacystis, Hydroureter OMIM:619431
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydronephrosis, Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Right ventr... ORPHA:280633
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Klippel-Trénaunay Syndrome
Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorr... ORPHA:90308
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right ventricular h... ORPHA:555874
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomyopa... ORPHA:157
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect, Abnormalit... ORPHA:101028
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Trisomy 8P
Hydronephrosis, Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Abnormal lung loba... ORPHA:264450
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia OMIM:236500
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia OMIM:183802
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Abnormal heart morphology, Renal dysplasia, Polycystic kidney dysplasia, Unilater... ORPHA:2237
Ogden Syndrome
Premature ventricular contraction, Ventricular septal defect, Ventricular tachycardia, Torsade de... OMIM:300855
Primary Pulmonary Hypoplasia
Dextrocardia, Intrauterine growth retardation, Pneumothorax, Recurrent respiratory infections, Ur... ORPHA:2257
Odontochondrodysplasia 1
Nephronophthisis, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dyspl... OMIM:184260
Congenital Rubella Syndrome
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Aplasia/Hypoplasia of... ORPHA:290
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection, Abnormal car... ORPHA:3342
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... OMIM:231680
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Renal tubular dysfunction, Patent ductus art... OMIM:614886
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Patent ductus arteriosus, Cerebral ischemia... ORPHA:1880
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Lacticaciduria, Abnormal heart morphology, Glutaric aciduria, Cardiomyopat... ORPHA:26791
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Pulmonary hypoplasia, Multicystic kidney dysplasia ORPHA:3032
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Ventricular septal defect, Renal hypoplasia, Microphthalmia, Intrauterine growt... OMIM:609053
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Abnormal cardiac sep... OMIM:618494
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Vascular dilatation, Ectopic kidney OMIM:602200
Nanophthalmos 4
Microphthalmia OMIM:615972
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Persistent left... OMIM:608978
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Patent ductus arteriosus, Micropenis, Atria... OMIM:613870
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia, Hypoplasia of the retina OMIM:263100
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cloacal Exstrophy
Horseshoe kidney, Myelomeningocele, Hydroureter, Renal hypoplasia/aplasia, Ureteropelvic junction... ORPHA:93929
3C Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Hypoplasia of penis, Abnormal mitral valv... ORPHA:7
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis OMIM:619362
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Microphthalmia, Renal hypoplasia/aplasia, Hydroureter ORPHA:568
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hypovolemia, Hydroureter, Renal insuffi... ORPHA:223
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Mul... OMIM:267010
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Ureteral obstruction, Hydronephrosis, Pneumonia, Urinary retention, Pneum... ORPHA:79404
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Abnormality of the kidney OMIM:616901
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Polycystic kidney dysplasia, Vesicoureteral ... OMIM:606232
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Fanconi Anemia
Hypospadias, Abnormal localization of kidney, Patent ductus arteriosus, Hypertrophic cardiomyopat... ORPHA:84
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Peripheral pulmonary artery stenosis, Mitral regurgitation, Aortic roo... OMIM:617506
46,Xx Sex Reversal 5
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect, Urogenital sinu... OMIM:618901
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Pulmonic steno... ORPHA:139466
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome, Abnormal mitral valve morpholo... ORPHA:1192
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Microphthalmia, Urinary retention, Subdural hemorrhage, Aortic ... ORPHA:90324
Stankiewicz-Isidor Syndrome
Hypospadias, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Patent ductus a... OMIM:617516
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Bronchiectasis, Persistent left superior vena cava, Situs inversus tota... ORPHA:244
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Short Rib-Polydactyly Syndrome
Hypospadias, Intrauterine growth retardation, Abnormal heart morphology, Situs inversus totalis, ... ORPHA:1505
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Pulmonary hypoplasia OMIM:614091
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Tricuspid regurgitation, Micropenis, Atrial septal defect, Polycystic ... OMIM:263520
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Pul... OMIM:610733
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Situs inversus total... OMIM:602088
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Bronchiectasis, Mitral reg... ORPHA:90348
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect, Microphthalmia OMIM:602501
Distal Trisomy 6P
Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Abnormal lung lobation, Abnorm... ORPHA:1745
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Lambert Syndrome
Hypospadias, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Neuroendocrine Neoplasm Of Appendix
Palpitations, Tricuspid stenosis, Heart murmur, Hypotension ORPHA:100079
Werner Syndrome
Hypertension, Neoplasm of the lung, Telangiectasia of the skin, Myocardial infarction, Congestive... ORPHA:902
Mosaic Trisomy 9
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Microphthalmia, Intrau... ORPHA:99776
Ochoa Syndrome
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... ORPHA:2704
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, Nephrocalcinosis, Abnormal heart morphology, Restrictive cardiomyopathy, ... ORPHA:369837
Immunodeficiency 49
Pulmonary artery stenosis OMIM:617237
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Abnormal cardiac septum morphology OMIM:616449
Branchiootorenal Syndrome 1
Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c... OMIM:113650
Oligomeganephronia
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... ORPHA:2260
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Atrial septal defect ORPHA:1035
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Buphthalmos, Hydronephrosis, Intrauterine growth retardation, Abnormal heart mo... OMIM:618460
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Meckel Syndrome, Type 1
Abnormality of the ureter, Microphthalmia, Renal agenesis, Intrauterine growth retardation, Coarc... OMIM:249000
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... OMIM:601005
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Ventricular hypertrophy, ... OMIM:612561
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Aortic root aneurysm OMIM:618496
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal neoplasm OMIM:135150
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney OMIM:613730
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Recurrent ... OMIM:613680
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation, Renal insufficiency OMIM:219730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal malrotation, Renal cyst, Nephrolithiasi... OMIM:120330
Faciothoracogenital Syndrome
Microphthalmia, Glandular hypospadias OMIM:227320
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... OMIM:208085
Mckusick-Kaufman Syndrome
Hydronephrosis, Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Pulmonary hypopl... OMIM:236700
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia, Intrauterine growth retardation OMIM:610756
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Paternal Uniparental Disomy Of Chromosome 5
Abnormally large globe, Secundum atrial septal defect, Renal duplication ORPHA:96190
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:616730
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Kapur-Toriello Syndrome
Ventricular septal defect, Microphthalmia, Patent ductus arteriosus, Tetralogy of Fallot, Hypopla... ORPHA:2328
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, Mitral regurgitation, Pulmonary arterial hypertension, Patent ductus arteriosus, ... OMIM:612541
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Recurren... OMIM:619575
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Intrauterine gro... OMIM:609029
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Faciocardiorenal Syndrome
Horseshoe kidney, Endocardial fibroelastosis, Hydroureter OMIM:227280
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Intrauterine growth retardation, Pancreatic cysts, Renal cyst, Polycystic kidney dys... OMIM:610199
22Q11.2 Deletion Syndrome
Hypospadias, Truncus arteriosus, Patent ductus arteriosus, Gastrointestinal hemorrhage, Varicose ... ORPHA:567
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Hypospadias, Horseshoe kidney, Abnormal heart morphology, Perimembranous ven... ORPHA:363444
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormally large globe, Ventricular septal defect, Micropenis OMIM:618504
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Methimazole Embryofetopathy
Hypospadias, Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardati... ORPHA:1923
Abruzzo-Erickson Syndrome
Hypospadias, Atrial septal defect, Abnormal localization of kidney, Coronal hypospadias ORPHA:921
Megalencephaly
Atrial septal defect, Long penis ORPHA:2477
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Hydronephrosis, Atrial septal defect, Recurrent respiratory infections... OMIM:618950
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation ORPHA:2515
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Microphthalmia ORPHA:2432
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosu... OMIM:617021
Orofaciodigital Syndrome I
Hypertension, Pancreatic cysts, Myelomeningocele, Abnormal heart morphology, Hepatic cysts, Polyc... OMIM:311200
Thakker-Donnai Syndrome
Ventricular septal defect, Hydronephrosis, Intrauterine growth retardation, Transposition of the ... ORPHA:1780
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse, Renal malrotation, Renal dysplasia, Renal cyst,... OMIM:617107
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Intrauterine growth retardation, Left ventricular hypertrophy, Renal... OMIM:611209
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Peripheral pulmonary artery stenosis... OMIM:194050
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Vesicoureteral re... OMIM:614261
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Tetraamelia Syndrome 2
Ventricular septal defect, Micropenis, Hypoplastic pulmonary veins OMIM:618021
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Hydronephro... ORPHA:449400
Williams Syndrome
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Cerebral i... ORPHA:904
Simpson-Golabi-Behmel Syndrome
Hypospadias, Ventricular septal defect, Ureteral duplication, Prolonged QT interval, Hydronephros... ORPHA:373
Meckel Syndrome, Type 2
Meningocele, Intrauterine growth retardation, Microphthalmia, Renal cyst OMIM:603194
Mungan Syndrome
Renal hypoplasia, Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic ste... OMIM:611376
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine... OMIM:616897
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, A... OMIM:613355
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomyopathy, Renal insu... OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Microphthalmia, Ketonuria OMIM:619053
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine gro... OMIM:612863
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease, Peripheral pulmonary artery stenosis OMIM:614099
Faciocardiorenal Syndrome
Horseshoe kidney, Endocardial fibroelastosis, Tricuspid valve prolapse ORPHA:1973
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Atrial septal defect, Vesicoureteral reflux... OMIM:616854
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morphology, Microphthalmia, Hydrone... ORPHA:2059
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Vesicoureteral r... OMIM:617660
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Nephrocalcinosis, Persistent left superior vena cava... ORPHA:2044
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Renal agenesis, ... OMIM:264480
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal agenesis, Intrauterine growth... ORPHA:887
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Ventricular septal defect, Intrauterine growth retardation, Renal cyst, Abnorma... ORPHA:166035
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Aminoaci... OMIM:249270
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chron... ORPHA:805
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia, Heart murmur OMIM:606744
Duane-Radial Ray Syndrome
Horseshoe kidney, Ventricular septal defect, Renal agenesis, Microphthalmia, Renal malrotation, R... OMIM:607323
Seckel Syndrome 9
Ventricular septal defect, Intrauterine growth retardation, Pulmonary artery hypoplasia, Recurren... OMIM:616777
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Mental Retardation, Autosomal Recessive 65
Hypospadias, Atrial septal defect OMIM:618109
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Anophthalmia, Patent ductus arteriosus, H... ORPHA:77298
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardation, Hypoplasia of... ORPHA:2772
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Pulmonary sequestration, Mitral s... ORPHA:2847
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Mitral valve prolapse, Ureteral triplication, Patent ductus arteriosus OMIM:104350
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Anophthalmia... ORPHA:2470
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Joubert Syndrome 22
Renal hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:615665
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation, Atrial septal defect, Multiple bladder diverticu... ORPHA:2728
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Coarctation of aorta, Renal cyst, Patent ductus arteriosus, Abn... OMIM:618454
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Atrial septal defect OMIM:608572
Caudal Regression Sequence
Hypertension, Ureteral duplication, Renal agenesis, Abnormality of the ureter, Vesicoureteral ref... ORPHA:3027
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Distal Monosomy 12Q
Hydronephrosis, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Micropenis, P... ORPHA:96149
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus ORPHA:457193
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... OMIM:613404
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology, Myelomeningocele ORPHA:1756
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Micropeni... OMIM:600460
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Pol... OMIM:615994
Phaver Syndrome
Ventricular septal defect, Intrauterine growth retardation, Myelomeningocele, Coarctation of aort... ORPHA:2876
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Abnormal aortic v... ORPHA:1120
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Mitral regurgitation, Abnormally large globe, Atrial se... OMIM:603387
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Atrial septal defect OMIM:301058
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Pulmonary arterial hypertensi... OMIM:615474
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Coarctation of aorta, Micropenis, Atrial septal defect, Tetralogy of F... OMIM:617159
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Coarctation of aorta, Mitral stenosis, Renal cyst, Patent ductus arteriosus, Hyp... OMIM:617260
Mowat-Wilson Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Patent ductus ... OMIM:235730
Dextrocardia
Dextrocardia, Abnormal pulmonary situs morphology, Abnormality of the ureter, Abnormal lung lobat... ORPHA:1666
Joubert Syndrome 20
Renal cyst OMIM:614970
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Abnormality of the kidney ORPHA:466926
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Craniofacial Microsomia
Ventricular septal defect, Renal agenesis, Microphthalmia, Anophthalmia, Coarctation of aorta, Pa... OMIM:164210
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Hydronephrosis, Renal dysplasia, Patent ductus arteriosus, Bladder trabecul... OMIM:614080
Familial Visceral Myopathy
Megacystis, Hydroureter, Vesicoureteral reflux ORPHA:2604
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Abnormal heart morphology, Renal dysplasia, B... OMIM:617641
Kapur-Toriello Syndrome
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Abnormality of the ur... OMIM:244300
Mosaic Trisomy 1
Renal cortical cysts, Ventricular septal defect, Microphthalmia, Coarctation of aorta, Renal cyst... ORPHA:1692
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arter... OMIM:612562
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Ureteral duplication, Bronchiectasis, Aortic regurgitation, Tricuspid regurgitation, Bifid ureter... OMIM:601347
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Pneumonia, Pelvic kidney, Pate... OMIM:603467
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia, Pulmonic stenosis, Patent foramen ovale OMIM:618914
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hydronephrosis, Micropenis, Atrial septal defect, Ureteral stenosis, Hydroureter OMIM:269150
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Cat Eye Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Renal agenesis, Microphthalmia OMIM:115470
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Ebstein anomaly of the tricusp... OMIM:224700
Wolcott-Rallison Syndrome
Chronic kidney disease, Double outlet right ventricle, Atrial septal defect, Renal insufficiency ORPHA:1667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Renal cyst, Patent ductus arteriosus, Ureteral sten... OMIM:615398
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst OMIM:614175
Vici Syndrome
Renal tubular acidosis, Recurrent respiratory infections, Cardiomyopathy, Ureteral atresia ORPHA:1493
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Chronic kidney disease, Abnorm... ORPHA:449395
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Atrial septal defect, Microphthalmia, Left superior vena cava... OMIM:611961
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:614300
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... OMIM:243910
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... ORPHA:397
Distal Monosomy 15Q
Hypospadias, Bicuspid aortic valve, Abnormal aortic arch morphology, Intrauterine growth retardat... ORPHA:1596
Bresek Syndrome
Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Renal dysplasia, Optic nerve h... ORPHA:85284
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:276422
Short-Rib Thoracic Dysplasia 18 With Polydactyly