banner
Genes Phenotypes Help, News, Blog

Gene: Sinhcaf MGI:1929091

Log in to follow

Gene Summary

Name:
SIN3-HDAC complex associated factor
Synonyms:
Tera,  Pptcs1,  Fam60a

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Sinhcafem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Sinhcafem1(IMPC)Ccpcz HOM   Early adult 0.00
increased blood urea nitrogen level Sinhcafem1(IMPC)Ccpcz HET   Early adult 1.07×10-05
abnormal kidney morphology Sinhcafem1(IMPC)Ccpcz HET Early adult 0.00
enlarged kidney Sinhcafem1(IMPC)Ccpcz HET Early adult 0.00
small testis Sinhcafem1(IMPC)Ccpcz HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images
X-ray

XRay Images Hind Leg and Hip

30 Images

View images
X-ray

XRay Images Forepaw

15 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images
X-ray

XRay Images Skull Lateral Orientation

15 Images

View images

Human diseases caused by Sinhcaf 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 Sinhcaf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism OMIM:219050
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Cleft palate, Spinal dysra... ORPHA:1926
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Si... OMIM:601186
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... OMIM:605376
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Growth delay, Hypoplastic left heart, Transposition of t... ORPHA:1727
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... OMIM:613759
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Pulmonary hypoplasia,... OMIM:314390
Eng-Strom Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S... ORPHA:1937
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... OMIM:220210
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... OMIM:600001
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
8P23.1 Microdeletion Syndrome
Short stature, Patent ductus arteriosus, Pulmonary artery stenosis, Growth delay, Hypertrophic ca... ORPHA:251071
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do... ORPHA:3426
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Perimembranous ventricular septal defect, High palate, Transposition of the great ... OMIM:617877
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas... ORPHA:2255
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, ... OMIM:179613
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A... OMIM:154230
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo... OMIM:313850
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Carpenter Syndrome 1
Ventricular septal defect, Short stature, Patent ductus arteriosus, Spina bifida occulta, High pa... OMIM:201000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... ORPHA:1354
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... ORPHA:1780
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia... ORPHA:1296
Ververi-Brady Syndrome
Intrauterine growth retardation, High palate, Transposition of the great arteries, Short stature OMIM:617982
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... OMIM:613845
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Mesoaxial Hexadactyly And Cardiac Malformation
Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... OMIM:249670
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Short stature, Dextrotransposition of the great arteries OMIM:619995
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia OMIM:614326
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Short stature, Postnat... OMIM:620210
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Short stature ORPHA:391646
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... ORPHA:2515
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... ORPHA:3304
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Patent ductus arteriosus, Hydrocephalus, Growth del... OMIM:614886
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Mirage Syndrome
Short stature, Patent ductus arteriosus, Esophageal stricture, Hydrocephalus, Anemia, Leukopenia,... OMIM:617053
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... OMIM:253800
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... ORPHA:251004
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... OMIM:208540
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... OMIM:616276
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Thrombocytopenia,... ORPHA:290
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... OMIM:608836
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short stature, Megarectum... OMIM:301056
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Dextrocardia, Situs inversus totalis OMIM:618948
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Grow... ORPHA:1667
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... OMIM:615524
Catel-Manzke Syndrome
Short stature, Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect ORPHA:1388
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate OMIM:615731
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... OMIM:616589
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, High palate, Atrial septal def... OMIM:612946
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration OMIM:313200
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Fo... OMIM:232220
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio... OMIM:223360
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemi... OMIM:185070
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atri... OMIM:618330
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Cleft palate, Abnormal aortic morphology, Tetralogy of ... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Hepatosplenomegaly, Azoosperm... ORPHA:168569
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Kallmann Syndrome-Heart Disease Syndrome
Short stature, Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrota... ORPHA:2326
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Hypoglossia With Situs Inversus
Asplenia, Situs inversus totalis, High palate, Polysplenia, Microglossia OMIM:612776
Gracile Bone Dysplasia
Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Ankyloglossia OMIM:602361
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Intrahepatic ... OMIM:614815
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... OMIM:130650
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
14Q11.2 Microdeletion Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Short stature, Protruding tongue, Complete atri... OMIM:190685
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, E... OMIM:192350
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Short statur... OMIM:616651
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... ORPHA:401935
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... OMIM:616652
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate,... OMIM:256520
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... OMIM:235200
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... OMIM:618624
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:619769
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Cardiomy... ORPHA:699
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Li-Campeau Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... OMIM:619189
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegal... OMIM:614576
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stat... OMIM:115470
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Hyperinsulinemia, Elevated circulating creatinine concentration,... ORPHA:230
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Asplenia,... ORPHA:99776
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... OMIM:616898
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Hydrocephalus, Cholestasis,... OMIM:615630
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten... ORPHA:2306
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... OMIM:601005
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short stature, Patent ductus arteriosus, Narrow palate, Cleft palate, T ly... OMIM:618223
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... ORPHA:3474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Irregular menstruation, Thyroidi... ORPHA:79259
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia ORPHA:3469
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Giant Cell Arteritis
Glossitis, Pericarditis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent phary... ORPHA:397
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Submucous cleft ha... OMIM:301043
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Ma... ORPHA:90321
Verheij Syndrome
Branchial cyst, Short stature, Ventricular septal defect, Cleft palate, Growth delay, Intrauterin... OMIM:615583
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:614034
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Short stature, Situs inversus totalis, Thiamine-... OMIM:249270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Megaloblastic anemia, Stroke, Atrial septal defect, Thr... ORPHA:49827
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Leukocytosis, Ce... ORPHA:2331
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, High palate, Atrial... OMIM:618142
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... ORPHA:2970
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerated median to... OMIM:312870
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu... ORPHA:1662
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Postnatal growth retardation, High palate, Ventricular septal defect, Short stature ORPHA:3369
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydroce... OMIM:300514
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion... ORPHA:2772
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo... ORPHA:84064
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:94066
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... ORPHA:7
Weill-Marchesani Syndrome
Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... OMIM:619123
Atelis Syndrome 1
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, High palate, Atrial septal defect,... OMIM:620184
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Short stature, Double outlet right ventricle with doubly c... ORPHA:1596
Noonan Syndrome 8
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pleural effusion, Pulmonic st... OMIM:615355
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy OMIM:300322
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect, Short stature OMIM:314320
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Hydrocephalus, Cleft pala... OMIM:612938
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Tyshchenko Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Narrow palate, Cleft palate, High ... OMIM:615102
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... ORPHA:284169
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus OMIM:218350
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged ... ORPHA:464329
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiect... OMIM:244400
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Proportionate short sta... ORPHA:488618
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft palate ORPHA:398156
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Unilateral renal agenesis OMIM:618188
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Intestinal malro... OMIM:609029
Warsaw Breakage Syndrome
Ventricular septal defect, Postnatal growth retardation, High palate, Intrauterine growth retarda... OMIM:613398
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Growth delay, Pulmonary hypoplasia, Pulmon... ORPHA:139466
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Hepatomeg... ORPHA:116
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... OMIM:222300
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, Hypoplasi... OMIM:617022
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Short stature, Secundum atrial septal defect, Congenital lobar overinf... OMIM:600987
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect, Hydrocephalus OMIM:602501
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... OMIM:615279
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Postnatal growth retardation, Large placenta, Abnormal heart morpholog... ORPHA:254534
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... ORPHA:452
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Cleft soft pala... OMIM:619503
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancr... ORPHA:731
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Short stature, Erythroid hypoplasia, Reticulocytope... OMIM:612528
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoes... ORPHA:77298
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, High palate, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of th... ORPHA:79328
Mosaic Trisomy 16
Meckel diverticulum, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnorma... ORPHA:1708
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... OMIM:619909
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Atrial septal defect, Intrau... ORPHA:75389
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, Hi... OMIM:249420
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... OMIM:614976
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Retroperitoneal fibrosis, S... OMIM:602782
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Macroglossia, ... OMIM:615668
Keutel Syndrome
Recurrent respiratory infections, Short stature, Ventricular septal defect, Pulmonary artery sten... ORPHA:85202
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... OMIM:613404
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Proportionate short stature, Cleft palate OMIM:609654
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... ORPHA:465508
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... ORPHA:96170
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:52
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Noonan Syndrome 9
Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Short stature, Increased mean platelet ... OMIM:222470
Velocardiofacial Syndrome
Ventricular septal defect, Short stature, Velopharyngeal insufficiency, Submucous cleft hard pala... OMIM:192430
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, High palate, Atrial septal de... OMIM:612582
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, High, narrow palate, Cleft palate, Coarctation of aorta, Abnormal hear... OMIM:618494
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosi... OMIM:615673
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... OMIM:619418
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation ORPHA:2143
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du... OMIM:249000
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Cleft palate, Coarctation of aorta, Atrial septal def... ORPHA:2008
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate OMIM:617616
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Disproportionate short-limb short stature ORPHA:1425
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Growth de... OMIM:619980
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Cleft palate OMIM:147800
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Cong... OMIM:611812
Ogden Syndrome
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Hydrocele testis, Hyp... OMIM:300855
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Anterio... OMIM:617159
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
Trisomy 13
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:3378
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Short stature, Cleft palate, Growth d... OMIM:614294
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Cleft palate, Atrial septal defect, Patent foramen oval... OMIM:614261
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, Pulmonary hyp... OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect ORPHA:93267
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Ventricular septal defect, Short stature ORPHA:1488
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Abnormal heart morphology, Macroglossia, High palate, U... ORPHA:369891
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Postnatal growth retardatio... OMIM:300963
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Charge Syndrome
Secundum atrial septal defect, Holoprosencephaly, Pulmonary artery atresia, Atrial septal defect,... OMIM:214800
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Burn-Mckeown Syndrome
Short stature, Ventricular septal defect, Cleft palate, Atrial septal defect, Bifid uvula OMIM:608572
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Short stature, Patent ductus arteriosus, Hypoplastic aor... OMIM:300166
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Short stature, Rhizomelia, Abnormal lung lobation, Coarctation of aort... OMIM:614114
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... ORPHA:40366
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Cleft pala... ORPHA:1393
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... OMIM:600460
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... OMIM:618021
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... OMIM:620113
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature OMIM:617450
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... ORPHA:96191
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Patent foramen ova... OMIM:617746
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Ventricular septal defect OMIM:617635
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Shor... OMIM:601808
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Mitral valve... OMIM:616564
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Short stature, Patent ductus arteriosus, Cleft ... ORPHA:2473
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Short stature, Coarct... OMIM:617602
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... ORPHA:564
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery hypo... OMIM:616777
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Intracranial ... OMIM:614424
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Intestinal malrotation, Short stature, Patent ductus arteriosus, Cleft... ORPHA:457193
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Splenomegaly, Pancreatic l... ORPHA:1655
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P... OMIM:618950
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Paten... OMIM:605275
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Vascular ring OMIM:603387
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature, Patent ductus arteriosus, Recurrent pneumonia, High pal... OMIM:300472
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Short stature, Splenomegaly, Patent ... ORPHA:354
King-Denborough Syndrome
High palate, Ventricular septal defect, Short stature OMIM:619542
Filippi Syndrome
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... ORPHA:3255
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short stature, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate ORPHA:52055
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Short stature, High palate, Atrial septal defect, Intrauterine growth ... OMIM:617452
15Q14 Microdeletion Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Cleft palate ORPHA:261190
Woods Syndrome
Ventricular septal defect OMIM:615236
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Hepatitis, Intest... ORPHA:436252
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Branchial fistula, Ventricular septal defect, Short stature, Hi... ORPHA:261330
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency OMIM:613680
Chops Syndrome
Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, High, narrow pa... OMIM:616368
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Bone marrow hypocellularity, Neutropenia, Atrial septal... OMIM:609053
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect, Short stature ORPHA:1458
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Short stature, Ventricular septal defect, Cleft palate ORPHA:1770
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... ORPHA:26793
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Atrial... OMIM:244300
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mening... OMIM:130720
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Thyro... OMIM:235510
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Cleft palate OMIM:617201
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... OMIM:618870
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
3P25.3 Microdeletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft... ORPHA:435638
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Ventricular septal defect, Short stature, Growth delay, High palate, Atrial... OMIM:270450
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... ORPHA:494344
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Short stature, High palate, Atrial septal defect, Intrauterine growth ... ORPHA:505237
19P13.3 Microduplication Syndrome
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Cleft palate ORPHA:447980
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Short stature, Patent ductus arteriosus, Reticulocy... OMIM:613309
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
Short Stature-Micrognathia Syndrome
Rhizomelia, Short stature, Ventricular septal defect, Cleft palate, High palate, Intrauterine gro... OMIM:617164
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615879
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Conotruncal defect, Coarctation of aorta, Growth delay, Macroglossia, Abnormal... ORPHA:96147
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Short stature OMIM:618027
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Short stature, Postnatal growth re... ORPHA:2962
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... ORPHA:96167
Spondylo-Ocular Syndrome
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature ORPHA:85194
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Atrial septal defect, Intrauterine growth retardation, H... ORPHA:254346
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, Abnormal heart morphology, Furrow... ORPHA:453499
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Atrial septal defect OMIM:220500
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Short stature, Aortic root aneurysm, Pulmonary hypoplasia, Atrial sept... OMIM:145420
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Malabsorption, Pyloric stenosis, Jaundice... ORPHA:912
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Recurrent upper respiratory tract infections, Ventricular se... ORPHA:3078
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:616730
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Short stature, Cleft palate, High palate, Holoprosencephaly, Pulmonary... OMIM:612530
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Galloway-Mowat Syndrome 7
Short stature, Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, High palate OMIM:618348
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Short stature, Esophageal atresia, Pulmonary artery stenosis, Spina bi... OMIM:301030
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Vascular dilatation OMIM:219730
Ogden Syndrome
Postnatal growth retardation, High, narrow palate, Pulmonary artery stenosis, Ventricular septal ... ORPHA:276432
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Kury-Isidor Syndrome
Growth delay, High palate, Ventricular septal defect OMIM:619762
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ... ORPHA:567
Trisomy 1Q
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Cleft palate, Anal atresia ORPHA:261344
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... OMIM:153400
Heart And Brain Malformation Syndrome
Growth delay, High, narrow palate, Ventricular septal defect, Interrupted aortic arch OMIM:616920
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
C Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Patent ductus arteriosus, High palate OMIM:211750
19Q13.11 Microdeletion Syndrome
Growth delay, Recurrent respiratory infections, Ventricular septal defect, Intrauterine growth re... ORPHA:217346
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Aplastic anemia, Ventricular septal defect OMIM:610832
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft pal... OMIM:300712
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... ORPHA:404440
Costello Syndrome
Ventricular septal defect, Short stature, Narrow palate, Mitral valve prolapse, Macroglossia, Pul... ORPHA:3071
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... OMIM:617360
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Opitz Gbbb Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Tracheoesophageal fistula, Cl... ORPHA:2745
Noonan Syndrome 4
Ventricular septal defect, Short stature, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... OMIM:610733
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Short stature, Intrauterine growth reta... ORPHA:166035
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Short stature OMIM:616901
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Short stature OMIM:615503
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft... OMIM:100300
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... OMIM:233450
Coffin-Siris Syndrome
Atrial septal defect, Ventricular septal defect, Postnatal growth retardation, Patent ductus arte... ORPHA:1465
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus... OMIM:117550
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, High palate, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... OMIM:613001
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227990
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Short stature, Patent ductus arterio... OMIM:609942
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Spina bifida... ORPHA:2308
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Short stature OMIM:618325
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Short stature, Pyloric stenosis, Patent ductus ... OMIM:610443
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal lung lobation, Cleft... OMIM:146510
Distal Duplication 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Short stature ORPHA:96097
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Short stature, Mesomel... OMIM:605039
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Short stature... ORPHA:261494
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteriosus, Cleft palate,... OMIM:614609
Distal Deletion 19P
Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va... ORPHA:96129
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227982
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Short stature, Pulmonary artery sten... OMIM:300998
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:457279
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydroceph... ORPHA:163979
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:2519
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Short stature, Recurrent pneumonia, ... ORPHA:209905
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Cleft palate, Anterior... OMIM:309801
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Esophageal atresia, Anencephaly, Cleft pa... ORPHA:3380
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Lateral Meningocele Syndrome
Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia ORPHA:2789
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Ventricular septal defect, Esophageal atresia, Cleft palate, Atrial septal defect OMIM:610536
Chromosome 9P Deletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... OMIM:158170
Focal Dermal Hypoplasia
Acute hepatic failure, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia... ORPHA:2092
Holoprosencephaly
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... ORPHA:2162
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hol... OMIM:147791
Doors Syndrome
Cleft palate, Sirenomelia, Narrow palate, High palate, Aspiration pneumonia, Thrombocytosis, Doub... ORPHA:79500
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Elevated circulating as... OMIM:614866
Weill-Marchesani Syndrome 1
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... OMIM:277600
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronar... OMIM:620024
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Spina bifida, Short stature, Pancre... OMIM:274000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, High... OMIM:214100
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Digeorge Syndrome
High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High palate, Hepatic s... OMIM:188400
Dysosteosclerosis
Ventricular septal defect, Short stature ORPHA:1782
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Atria... OMIM:616449
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... OMIM:620025
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Tetralogy of ... OMIM:118450
16P13.11 Microdeletion Syndrome
Short stature, Ventricular septal defect, Cleft palate, Holoprosencephaly, Atrial septal defect ORPHA:261236
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Short stature, Complete atrioventricular canal defect, ... OMIM:617063
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short stature, Tetralogy of Fallo... ORPHA:508498
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Pulmonary hypopl... ORPHA:1692
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short stature, Congenital hypop... OMIM:105650
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Proportionate short stature, Postnat... ORPHA:79345
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis OMIM:240300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect, Cleft palate OMIM:106260
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Short stature, Patent ductus arteriosus, Clef... OMIM:616894
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... ORPHA:124
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic aortic arch, Coar... OMIM:617506
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... OMIM:236680
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... OMIM:619103
Kleefstra Syndrome 1
Macroglossia, Recurrent respiratory infections, Conotruncal defect, Protruding tongue OMIM:610253
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Postnatal growth retardation, Reduced alpha/beta sy... OMIM:301040
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Cleft ... OMIM:610759
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Intes... ORPHA:955
3Mc Syndrome 1
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Cleft palate, ... OMIM:257920
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re... OMIM:618268
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation OMIM:222448
Opitz Gbbb Syndrome
Ventricular septal defect, Rectourethral fistula, Cleft palate, Growth delay, High palate, Umbili... OMIM:300000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Radio-Tartaglia Syndrome
High, narrow palate, High palate, Ventricular septal defect OMIM:619312
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Short stature, Reticulocytopenia, Anemia, Bone marrow hy... OMIM:227645
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongu... ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect OMIM:309520
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Short stature, High, narrow palate, ... ORPHA:193
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Weill-Marchesani Syndrome 2
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... OMIM:608328
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like e... ORPHA:137675
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... OMIM:263520
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Hepatic steatosis, Bifid uvula, ... OMIM:270400
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cleft pa... OMIM:616145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Ventricular septal defect OMIM:234050
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Growth delay, M... OMIM:613457
Rubinstein-Taybi Syndrome 1
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Atrial septal de... OMIM:180849
Marden-Walker Syndrome
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric st... ORPHA:2461
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Atrial septal defect, Anal atres... OMIM:607323
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Patent ductus ar... OMIM:300373
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Pseudoaminopterin Syndrome
Short stature, Asplenia, Hydrocephalus, High palate, Patent foramen ovale ORPHA:221120
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... ORPHA:79329
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... OMIM:619575
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular volume, High palate... ORPHA:261250
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:251038
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Short stature, Rhizomelia, Pyloric stenosis, Pa... ORPHA:818
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Truncus arteriosus, Ventricular septal d... ORPHA:508488
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Recurrent lower respiratory tract infections, Ventricular septal defect, Int... OMIM:619229
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, Coarctation of ... OMIM:618454
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Severe short stature, Ventricular septal defect, Patent ductus ... ORPHA:3047
Apert Syndrome
Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Hydrocephalus,... OMIM:101200
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Larsen Syndrome
Ventricular septal defect, Short stature, Cleft palate, Atrial septal defect, Intrauterine growth... OMIM:150250
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Growth delay, Aortic root aneurysm, Mitral sten... ORPHA:96201
Degcags Syndrome
Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foramen ovale, Hepa... OMIM:619488
Rabson-Mendenhall Syndrome
Ventricular septal defect, Short stature, Furrowed tongue, Cardiomyopathy, Macroglossia, Severe p... ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Ventricular septal defect, Short stature, Protruding tongue OMIM:212066
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... ORPHA:97214
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta ORPHA:268249
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Short stature, Patent du... OMIM:617140
Ulnar-Mammary Syndrome
Short stature, Ventricular septal defect, Pyloric stenosis, Ectopic anus, Delayed puberty, Anal a... ORPHA:3138
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Short stature, Patent ductus arteriosus, Furrowed tongue, High palate,... OMIM:616975
Marshall-Smith Syndrome
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Recurrent u... OMIM:602535
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, High palate, Ventricular septal defect, Intrauterine growth retardation OMIM:614653
Trichothiodystrophy
Ventricular septal defect, Recurrent bronchopulmonary infections, High, narrow palate, Increased ... ORPHA:33364
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, Short stature, Coarctation of aorta, High pala... OMIM:244450
Phelan-Mcdermid Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Short stature, Aqueductal stenosis, Patent duct... OMIM:154400
Leigh Syndrome
Ventricular septal defect, Growth delay, Neutropenia, Intrauterine growth retardation, Hypertroph... ORPHA:506
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydrocephalus, Growth delay, ... ORPHA:96121
Diets-Jongmans Syndrome
Ventricular septal defect, Short stature, Interrupted inferior vena cava with azygous continuatio... OMIM:618846
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Short stature, Ventricular septal defect, Cleft palate OMIM:178110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:352665
Cutis Laxa, Autosomal Dominant 1
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Codas Syndrome
Ventricular septal defect, Short stature, Rectovaginal fistula, Atrial septal defect, Atrioventri... OMIM:600373
Robinow Syndrome
Ventricular septal defect, Short stature, Bifid tongue, Abnormal heart morphology, Coarctation of... ORPHA:97360
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Macrogloss... ORPHA:261337
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, High palate, Ventricular septal defect, Cleft palate ORPHA:251028
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Sh... OMIM:163950
Cerebellofaciodental Syndrome
Ventricular septal defect, Short stature, Mitral valve prolapse OMIM:616202
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Short stature, Patent ductus arteriosus, Hydro... OMIM:102500
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Short stature, Hiatus hernia, Malrotation of colon, High, n... OMIM:122470
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Patent ductus arteriosus, Birth length less than 3rd percentile, Intra... ORPHA:464311
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... ORPHA:1519
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, High, narrow palate,... ORPHA:373
Teebi-Shaltout Syndrome
Short stature, Ventricular septal defect, High, narrow palate, Cleft palate, Aortic valve stenosis OMIM:272950
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Postnatal growth retardation, Patent... OMIM:117650
Mosaic Trisomy 20
Ventricular septal defect, Dysplastic tricuspid valve, Cleft palate, Abnormal mitral valve morpho... ORPHA:1724
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353281
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Short stature OMIM:250410
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature... OMIM:147920
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Intrauterin... ORPHA:464306
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... OMIM:273395
Microphthalmia, Syndromic 3
Ventricular septal defect, Short stature, Postnatal growth retardation, Esophageal atresia, Paten... OMIM:206900
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Cleft p... OMIM:139210
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:2729
Johanson-Blizzard Syndrome
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Short stature, Elev... OMIM:243800
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Mitral ... ORPHA:444072
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Short stature, Postnatal growth re... ORPHA:96334
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Short stature, Per... OMIM:619268
Costello Syndrome
Ventricular septal defect, Short stature, Pyloric stenosis, Hydrocephalus, Pneumothorax, Mitral v... OMIM:218040
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Growth delay, High palate, Holoprosencephaly, Umbilical hernia, Patent... OMIM:613884
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Growth delay,... OMIM:301044
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... ORPHA:363958
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Short stature, High palate, Pulmonic stenosis, Atrial septal defect, H... OMIM:607721
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Cleft palate ORPHA:251014
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus... OMIM:615948
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef... OMIM:608670
Omodysplasia 1
Rhizomelia, Ventricular septal defect, Pulmonary artery stenosis, Disproportionate short-limb sho... OMIM:258315
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Duodenal ulc... OMIM:135900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Disproportionate sh... OMIM:210710
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Gl... ORPHA:444077
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Atri... ORPHA:904
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Secundum atr... OMIM:616268
Oculodentodigital Dysplasia
Umbilical hernia, Ventricular septal defect, Cleft palate ORPHA:2710
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle... ORPHA:466791
Tbck-Related Intellectual Disability Syndrome
Macroglossia, High, narrow palate, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353277
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent duc... OMIM:616682
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, High, narro... ORPHA:3472
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Situs inversus totalis, Cleft palate, High palate, Atri... OMIM:309500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... ORPHA:363700
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Short stature, Hydrocephalus, Malrotation of small b... OMIM:194190
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... OMIM:617107
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect OMIM:609460
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Short stature, Asplenia, Py... ORPHA:2152
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Postnatal growth retardation, Patent ductus arterios... OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Aganglionic m... ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Anomal... ORPHA:438213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Bicuspid aortic valve, Ventricular septal defect, High, narrow pal... OMIM:619475
Keutel Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery hypoplasia, Pul... OMIM:245150
Femoral-Facial Syndrome
Short stature, Ventricular septal defect, Cleft palate, Pulmonic stenosis, Truncus arteriosus OMIM:134780
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation, Patent... OMIM:261540
Williams-Beuren Syndrome
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Short... OMIM:194050
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Short stature, Pyloric ... OMIM:235730
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Short stature,... ORPHA:268261
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal... OMIM:107480
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula OMIM:613458
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal lung lobation, Micro... ORPHA:672
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Short st... OMIM:143095
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Short stature, Muscular ventricular septal defect, Dysplastic tricuspi... OMIM:157800
Penile Agenesis
Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Bilateral lung agenesis, Pu... ORPHA:49
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Growt... ORPHA:459070
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate... OMIM:271640
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate ORPHA:1071
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect, Cleft palate ORPHA:1934
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... ORPHA:434179
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Clef... OMIM:164210
Proboscis Lateralis
High palate, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Short stature OMIM:619727
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, High palate, At... OMIM:619522
Cornelia De Lange Syndrome
Ventricular septal defect, Intestinal malrotation, Short stature, Pyloric stenosis, Cleft palate,... ORPHA:199
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Recurrent pneumonia, High palate, Umbilical hernia, Bifid uvula, Recur... OMIM:620330
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature OMIM:259770
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate ORPHA:513456
Sotos Syndrome
Ventricular septal defect, Aganglionic megacolon, Small cell lung carcinoma, Patent ductus arteri... ORPHA:821
Genitopatellar Syndrome
Anal stenosis, Ventricular septal defect, Malrotation of small bowel, Anteriorly placed anus, Pul... OMIM:606170
Ulnar-Mammary Syndrome
Anal stenosis, Ventricular septal defect, Pyloric stenosis, Delayed puberty, Anal atresia OMIM:181450
Pallister-Killian Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rhizomelia, Mesomelic/rhizomeli... OMIM:601803
Yunis-Varon Syndrome
Ventricular septal defect, Pyloric stenosis, Growth delay, Cardiomyopathy, Birth length less than... OMIM:216340

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 Sinhcaf

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 Sinhcaf.

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

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.

MGI Allele Allele Type Produced
Sinhcafem1(IMPC)Ccpcz Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter