Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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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 Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 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
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... OMIM:231060
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Recurrent sinopu... ORPHA:244
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal... ORPHA:1926
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... OMIM:616749
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... ORPHA:90301
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... OMIM:601186
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Intrauterine growth retardation, S... ORPHA:1937
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... OMIM:220210
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1727
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... OMIM:154230
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... ORPHA:85445
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Ventricular septal defect, Pancreatic hypoplasia, U... OMIM:600001
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Intrauterine growth retardation, Double... OMIM:270100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... ORPHA:251071
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short stature, Pulmonic stenosis, Spina bifida occulta, Transposition of the great a... OMIM:617877
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... OMIM:614876
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Short stature, Pulmonic sten... ORPHA:3426
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Transposit... OMIM:314390
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Growth delay, Atrial septal defect, Pulmonic stenosis, Tetralogy o... OMIM:179613
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Ventricular sept... ORPHA:2255
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Thoracoabdominal Syndrome
Hydrocephalus, Cleft palate, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Patent ductus art... OMIM:313850
Azotemia, Familial
Azotemia OMIM:109160
Carpenter Syndrome 1
High palate, Atrial septal defect, Short stature, Pulmonic stenosis, Tetralogy of Fallot, Spina b... OMIM:201000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect, Branchial anomaly... ORPHA:1296
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Thakker-Donnai Syndrome
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Communicating hydrocephalus, Ventri... ORPHA:1780
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate, Short stature OMIM:619995
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Patent ductus ... OMIM:249670
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Ververi-Brady Syndrome
High palate, Intrauterine growth retardation, Transposition of the great arteries, Short stature OMIM:617982
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Macroglossia OMIM:616789
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Feingold Syndrome 2
Ventricular septal defect, Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hydranencephaly OMIM:601355
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... OMIM:619910
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Ambiguous genitalia, male, Hypopla... ORPHA:753
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Spina... ORPHA:2476
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Short stature, Ventricular septal defect, Dilated cardiomyopathy, Intrauteri... ORPHA:2515
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:617021
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Hydrocephalus, Atrial septal defect, Short stature... OMIM:614886
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia, Short stature ORPHA:391646
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate, Tetralogy of Fallot ORPHA:217
Mirage Syndrome
Hydrocephalus, Lymphopenia, Short stature, Aspiration pneumonia, Intracranial hemorrhage, Leukope... OMIM:617053
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Ventricular septal def... ORPHA:290
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Tetralogy Of Fallot
Intrauterine growth retardation, Tetralogy of Fallot ORPHA:3303
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Short stature OMIM:614947
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... OMIM:608836
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular septal defect, Intrauterin... ORPHA:2516
Catel-Manzke Syndrome
Atrial septal defect, Cleft palate, Short stature, Glossoptosis, Ventricular septal defect ORPHA:1388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... OMIM:253800
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... OMIM:232220
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... OMIM:308750
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Portal hypertension,... OMIM:616589
Endocrine-Cerebroosteodysplasia
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... OMIM:612651
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary ar... OMIM:612946
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... ORPHA:1667
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hepatomegaly, Short stature, Pulmonic stenosis, Leukopenia, Pulmon... OMIM:301056
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... OMIM:232200
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Persistence of hemoglobin ... OMIM:612561
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility OMIM:313200
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegal... OMIM:606003
Facial Dysmorphism With Multiple Malformations
Anal atresia, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... OMIM:227255
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Noctu... OMIM:223360
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Intrauterine growth retardation, Hypoplastic left hea... ORPHA:2209
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Short stature, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, ... ORPHA:1908
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Short stature, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the p... ORPHA:1166
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Short Rib-Polydactyly Syndrome
Disproportionate short-limb short stature, Cleft palate, Intestinal malrotation, Hepatic cysts, S... ORPHA:1505
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Over... OMIM:130650
H Syndrome
Amenorrhea, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Hypertrig... ORPHA:168569
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Mening... OMIM:611134
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... OMIM:274150
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Neu-Laxova Syndrome 1
Stillbirth, Cleft palate, Short umbilical cord, Hydranencephaly, Ventricular septal defect, Small... OMIM:256520
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Short stature, Pulmonary artery hypoplasia, Anomalou... ORPHA:2326
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Anencephaly, ... ORPHA:1335
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, High palate ORPHA:261120
Hypoglossia With Situs Inversus
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia OMIM:612776
Down Syndrome
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... OMIM:190685
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Gracile Bone Dysplasia
Hydrocephalus, Short stature, Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Roifman Syndrome
Hepatomegaly, Short stature, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction... OMIM:616651
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Ventricular septal defec... OMIM:280000
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Pulmonary artery atresia, Ventricular septal defect... ORPHA:401935
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Urethritis, Ur... ORPHA:449395
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... OMIM:617303
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Intestinal malrotation, Splenogonadal f... OMIM:156810
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:617044
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... ORPHA:699
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Hiatus hernia, Persistence of hemoglobin F, Recurrent upper respiratory tra... OMIM:619769
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Thrombocytop... OMIM:618624
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Inflammation of the l... OMIM:614576
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Vater/Vacterl Association
Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Occipital encephalocele... OMIM:192350
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Short stature, ... OMIM:618223
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:83473
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Impotence, Hepatome... OMIM:235200
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Cat Eye Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... OMIM:115470
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:616145
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Pyloric stenosis OMIM:614262
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Short stature OMIM:616901
Li-Campeau Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Patent ductus arteriosus, Patent ... OMIM:619189
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Intestinal malrotation, Abnormal liver lobulatio... ORPHA:99776
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Thyroiditis, Hyperlipidemia, Hepatomegaly, Irregular menstruation, Menorrhagia, ... ORPHA:79259
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypopl... OMIM:617022
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Recurrent viral upper respiratory ... OMIM:616898
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Hepatomegaly, Splenomegaly, Short stature, Hepatic failure, Cholestasis, Ventricul... OMIM:615630
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Elevated urinar... OMIM:276700
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney OMIM:608022
Xk Aprosencephaly Syndrome
Ventricular septal defect, Anal atresia, Atrial septal defect ORPHA:3469
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Intestinal... ORPHA:2847
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation OMIM:614815
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... ORPHA:2306
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Stroke, Atrial septal defect, Short stature, Ventricular septal defect, Thr... ORPHA:49827
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Retrograde ... ORPHA:230
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Stroke, Atrial septal defect, Short stature, Ventricular septal defect, Sit... OMIM:249270
Chime Syndrome
Pulmonary valve atresia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transposit... ORPHA:3474
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Hepatomegaly, Renal insufficiency, Proteinuria, Male hypogonadism,... ORPHA:90321
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intrauterine growth retardation, Duodenal atresia, Lymphopenia, Ente... OMIM:243150
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... OMIM:614034
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Postnatal growth retardation, High palate, Short stature ORPHA:3369
Methimazole Embryofetopathy
Intrauterine growth retardation, Tracheoesophageal fistula, Coarctation of aorta, Ventricular sep... ORPHA:1923
Prune Belly Syndrome
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Tetralogy of Fall... ORPHA:2970
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Disproportionate short-limb short stature, Intrauterine growth retarda... ORPHA:2772
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Duodenal atresia, Hydrocephalus, Tracheoesophageal fistula, Apla... OMIM:300514
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent duc... OMIM:618142
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Renal dysplasia, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:613091
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Spina bifida ORPHA:2345
Syndromic Diarrhea
Gastritis, Hepatomegaly, Hepatoblastoma, Ventricular septal defect, Intrauterine growth retardati... ORPHA:84064
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Hepatomegaly, Hepatoblastoma, Cleft palate, Ventricular septal defect, Umbilical h... OMIM:312870
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Hydrocephalus, Atrial septal defect... ORPHA:7
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricul... OMIM:600123
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Noonan Syndrome 8
Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular... OMIM:615355
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Short stature, Ventricular septal defect, Patent ductus arteriosus, Intraut... OMIM:608406
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate, Short stature OMIM:314320
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Tetralogy o... ORPHA:163956
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... OMIM:223900
Restrictive Dermopathy
Atrial septal defect, Short umbilical cord, Large placenta, Small placenta, Dextrocardia, Patent ... ORPHA:1662
Lambotte Syndrome
Ventricular septal defect, Intrauterine growth retardation, Semilobar holoprosencephaly OMIM:245552
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... ORPHA:2184
Emanuel Syndrome
High palate, Anal atresia, Intrauterine growth retardation, Aortic valve stenosis, Atrial septal ... OMIM:609029
Kaposiform Lymphangiomatosis
Metrorrhagia, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Pancreatic... ORPHA:464329
Cardiofacioneurodevelopmental Syndrome
Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventric... OMIM:619123
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Cleft palate, Bifid uvula, Ventricular septal defect, Protruding tongue, Patent du... OMIM:612938
Tyshchenko Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Short statur... OMIM:615102
Leprechaunism
Hypokalemia, Hyperinsulinemia, Hepatomegaly, Hypercalciuria, Long penis, Increased circulating re... ORPHA:508
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus OMIM:218350
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... ORPHA:488618
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Ectopic anus, Cleft palate ORPHA:94066
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Atrial septal defect, Hepatic cysts OMIM:263630
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Esophageal varix, Umbilica... OMIM:301068
Kawasaki Disease
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:2331
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Bilateral cleft lip and palate, Holoprosencephaly, Anterior encephalocele OMIM:601357
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Short stature, Increased hepatic glycogen content, Chronic hepatitis,... OMIM:614921
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele, Cleft palate ORPHA:398156
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... OMIM:612562
Hypouricemia, Renal, 2
Nephrolithiasis, Hypouricemia OMIM:612076
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Short stature ORPHA:3449
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Clef... OMIM:619895
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Beckwith-Wiedemann Syndrome
Hepatomegaly, Enlarged kidney, Adrenocortical carcinoma, Cardiomegaly, Nephrolithiasis, Splenomeg... ORPHA:116
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Serkal Syndrome
Pulmonic stenosis, Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, G... ORPHA:139466
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... ORPHA:2876
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Double outlet right ventricle with doubly co... ORPHA:1596
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... OMIM:618280
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Leukemia OMIM:602501
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Hyperuricemia OMIM:300322
Filippi Syndrome
Ventricular septal defect, Postnatal growth retardation, Intrauterine growth retardation OMIM:272440
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Short stature, Pulmonic stenosis, Ventricular septal... OMIM:248950
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Renal Cysts And Diabetes Syndrome
Glycosuria, Pancreatic hypoplasia, Elevated circulating creatinine concentration, Proteinuria, Hy... OMIM:137920
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... OMIM:610205
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Hypertrophic c... OMIM:615279
Warsaw Breakage Syndrome
Ventricular septal defect, Intrauterine growth retardation, High palate, Tetralogy of Fallot OMIM:613398
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Hypouricemia, Renal, 1
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... OMIM:220150
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Growth delay OMIM:613457
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Gro... OMIM:300963
Pelger-Huet Anomaly
Neutropenia, Median cleft palate, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Ventri... OMIM:169400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Normochromic anemia, Persistent left... OMIM:618775
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... ORPHA:505248
Wolfram Syndrome 1
Testicular atrophy, Hydroureter, Hypothyroidism, Hydronephrosis, Diabetes mellitus, Neurogenic bl... OMIM:222300
Alg9-Cdg
Hypoplasia of the ovary, Ureteral hypoplasia, Bicornuate uterus, Hepatomegaly, Hypoplasia of the ... ORPHA:79328
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Umbilical hernia, Postnatal growth retardat... ORPHA:254534
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Aganglionic megacolon, Atrial septal defect OMIM:613870
Diamond-Blackfan Anemia 5
Short stature, Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Re... OMIM:612528
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Short stature, Coarctation of ... OMIM:600987
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Ventricular septal defect, Patent ductus arteri... ORPHA:452
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis OMIM:618021
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... ORPHA:95430
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Recurrent bronchitis, Pneumonia, Bronchiecta... OMIM:244400
Kagami-Ogata Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Tracheoesophageal fistula, Ventricular septal defect, Patent du... ORPHA:77298
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Anemia, Hypertrophic cardiomyopathy ORPHA:255241
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Cleft palate, Right ventricular hypertrophy, Short stature, Ventricular sep... OMIM:614261
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Pulmonary artery stenosis, Intrau... ORPHA:75389
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Growth delay, High palate, Tetralogy of Fallot ORPHA:3306
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Cholestatic liver disease, Right ventricular hypertrophy, Ven... OMIM:613404
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Infertility, Decrea... ORPHA:465508
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... OMIM:619472
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Arteriovenous malformation, Hydrocephalus, Cirrhosis, Leukop... ORPHA:974
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... ORPHA:363705
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Atrial septal defect, Hepatomegaly, Short stature, Pulmonic stenosis, Cervical lym... OMIM:602782
Keutel Syndrome
Short stature, Ventricular septal defect, Recurrent sinusitis, Pulmonary artery stenosis, Recurre... ORPHA:85202
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature, High palate, Cleft palate OMIM:609654
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Short stature, Intestinal malrotation, Coarctati... OMIM:617602
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Periportal fibrosis, Splenomegaly, Intestinal malrotation, Holoprose... OMIM:269860
Alagille Syndrome
Peripheral pulmonary artery stenosis, Atrial septal defect, Hepatomegaly, Reduced number of intra... ORPHA:52
Emanuel Syndrome
High palate, Anal atresia, Ectopic anus, Intrauterine growth retardation, Aortic valve stenosis, ... ORPHA:96170
Mosaic Trisomy 16
Atrial septal defect, Single coronary artery origin, Coarctation of aorta, Large placenta, Ventri... ORPHA:1708
Frank-Ter Haar Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Secundum atrial septal defect, ... OMIM:249420
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... OMIM:615550
Cystinuria
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency ORPHA:214
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Stroke, Myofiber disarray, Pulmonary edema, Muscular ventricular septal... OMIM:115197
Johnson Neuroectodermal Syndrome
Cleft palate, Short stature, Ventricular septal defect, Patent ductus arteriosus, Growth delay, R... OMIM:147770
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta, Short stature OMIM:616559
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Secundum at... OMIM:619909
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Right ventricular hypertro... OMIM:208085
Trichohepatoenteric Syndrome 1
Hepatomegaly, Jaundice, Short stature, Pulmonic stenosis, Splenomegaly, Cirrhosis, Hepatic failur... OMIM:222470
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microves... OMIM:619418
Short Stature-Micrognathia Syndrome
High palate, Cleft palate, Short stature, Ventricular septal defect, Rhizomelia, Intrauterine gro... OMIM:617164
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Double outlet right ventricle, High palate, Hypoplastic left heart, Muscular ventricular septal d... OMIM:619503
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Impotence, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Dec... ORPHA:447
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Ventri... OMIM:619343
Acrocardiofacial Syndrome
Mitral stenosis, Anal atresia, Atrial septal defect, Cleft palate, Coarctation of aorta, Tetralog... ORPHA:2008
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Abnormality of mesentery morphology ORPHA:2256
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Desbuquois Syndrome
Ventricular septal defect, Disproportionate short-limb short stature, Severe short stature ORPHA:1425
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Cleft palate OMIM:243440
Myopathy With Extrapyramidal Signs
Hepatomegaly, Leukocytosis, Splenomegaly, Ventricular septal defect, Elevated hepatic transaminas... OMIM:615673
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, Ventricular ... OMIM:612582
Trisomy 13
Atrial septal defect, High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular sept... ORPHA:3378
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Tetralogy of Fallot ORPHA:2328
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchar... OMIM:252500
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Short statur... OMIM:192430
Braddock-Carey Syndrome 1
Cleft palate, Ventricular septal defect, Anteriorly placed anus, Aortic valve prolapse, Growth de... OMIM:619980
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate OMIM:147800
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Umbilical hernia ORPHA:2143
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:329224
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Anal atresia, Intrauterine growth retardation, Hydrocephalus,... OMIM:249000
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short stature, Macrocytic anemia, Ventricular s... OMIM:614294
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Short stature, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Vent... OMIM:617159
Lymphedema-Distichiasis Syndrome
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose ... OMIM:153400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia ORPHA:93267
Ogden Syndrome
Hydrocele testis, Global glomerulosclerosis, Hyperbilirubinemia, Maternal diabetes, Enlarged kidn... OMIM:300855
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Umbilical hernia, Aplasia/Hyp... OMIM:214800
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Coarctat... OMIM:264480
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertrophic car... OMIM:616897
Burn-Mckeown Syndrome
Atrial septal defect, Cleft palate, Short stature, Bifid uvula, Ventricular septal defect OMIM:608572
Cooper-Jabs Syndrome
Ventricular septal defect, Short stature, Anteriorly placed anus, Umbilical hernia ORPHA:1488
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... OMIM:600460
Mosaic Variegated Aneuploidy Syndrome 2
Severe intrauterine growth retardation, Duodenal atresia, Atrial septal defect, Short stature, Co... OMIM:614114
Noonan Syndrome 10
Mitral stenosis, High palate, Atrial septal defect, Short stature, Pulmonic stenosis, Left ventri... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Intrauterine growth retardation OMIM:617635
Stormorken Syndrome
Short stature, Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies OMIM:185070
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring OMIM:603387
Microphthalmia, Syndromic 2
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Short stature, Pulmon... OMIM:300166
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Macroglossia, Short stature, Ventricular septal defect, Patent foramen ovale, Umbili... ORPHA:369891
Paternal Uniparental Disomy Of Chromosome 6
High palate, Hepatomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umb... ORPHA:96191
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasi... OMIM:235255
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Growth delay OMIM:619908
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Cerebrocostomandibular Syndrome
Myelomeningocele, Cleft palate, Short stature, Glossoptosis, Short hard palate, Hydranencephaly, ... ORPHA:1393
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Seckel Syndrome 9
Atrial septal defect, Short stature, Ventricular septal defect, Pulmonary artery hypoplasia, Intr... OMIM:616777
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Carpenter Syndrome 2
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Situs inversus totalis, De... OMIM:614976
Noonan Syndrome 2
Mitral stenosis, High palate, Atrial septal defect, Atrioventricular canal defect, Pulmonic steno... OMIM:605275
Woods Syndrome
Ventricular septal defect OMIM:615236
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Conotr... ORPHA:40366
Filippi Syndrome
Severe short stature, Short stature, Ventricular septal defect, Growth delay, Intrauterine growth... ORPHA:3255
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spl... ORPHA:564
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft palate, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary... OMIM:611812
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Short stature ORPHA:261190
Gm1 Gangliosidosis
Cherry red spot of the macula, Macroglossia, Aspiration pneumonia, Short stature, Splenomegaly, H... ORPHA:354
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft pala... ORPHA:2473
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Cleft palate, Short stature, Intestinal malrotation, Ventricular septal def... ORPHA:457193
Fanconi Anemia, Complementation Group I
Atrial septal defect, Short stature, Ventricular septal defect, Patent foramen ovale, Neutropenia... OMIM:609053
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency OMIM:613680
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Ventric... ORPHA:436252
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplen... ORPHA:1655
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Short stature, Cleft palate, Umbilical hernia ORPHA:1770
Chops Syndrome
Anomalous pulmonary venous return, High, narrow palate, Short stature, Aspiration pneumonia, Sple... OMIM:616368
Kapur-Toriello Syndrome
Atrial septal defect, Cleft palate, Intestinal malrotation, Ventricular septal defect, Patent duc... OMIM:244300
Codas Syndrome
Ventricular septal defect, Extrahepatic biliary duct atresia, Short stature ORPHA:1458
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Short stature, Branchial fistula, Ventri... ORPHA:261330
Suleiman-El-Hattab Syndrome
High palate, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Recurrent res... OMIM:618950
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Atrial septal defect, Short stature, Ventricular septal defect, Intrauterine growth ... OMIM:617452
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, Renal malrotation ORPHA:500095
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Short stature, Bifid uvula, Ventricular septal defect, Recurrent aspiration pneumoni... OMIM:300472
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Cleft palate, Short stature, Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
King-Denborough Syndrome
Ventricular septal defect, High palate, Short stature OMIM:619542
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Elevated hepatic transaminase, Dil... ORPHA:26793
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Ventricular septal de... ORPHA:435638
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Atrial septal defect, Mild postnatal growth retardation, Pleural lymphangiectasia,... OMIM:235510
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Short stature, Ventricular septal defect, Patent ductus arteriosus, Patent ... OMIM:618870
Insulin-Like Growth Factor I, Resistance To
High palate, Atrial septal defect, Short stature, Ventricular septal defect, Patent foramen ovale... OMIM:270450
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Cleft palate, Short stature, Macrocytic anemia, Ventricular septal def... OMIM:613309
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Postnatal growth retardation, Intrauterine growth retardation, Abnorma... ORPHA:494344
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Atrial septal defect, Short stature, Ventricular septal defect, Intrauterine growth ... ORPHA:505237
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... OMIM:164280
Spondylo-Ocular Syndrome
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature ORPHA:85194
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
19P13.3 Microduplication Syndrome
Ventricular septal defect, Growth delay, Intrauterine growth retardation, Cleft palate ORPHA:447980
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Vascular dilatation OMIM:219730
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale, Short stature OMIM:618027
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal stomach mor... ORPHA:141127
19P13.12 Microdeletion Syndrome
Atrial septal defect, Cleft palate, Ventricular septal defect, Hepatic steatosis, Intrauterine gr... ORPHA:254346
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615879
Zellweger Syndrome
High palate, Malabsorption, Hepatomegaly, Short stature, Hepatic failure, Ventricular septal defe... ORPHA:912
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Orofaciodigital Syndrome V
High palate, Cleft palate, Bifid tongue, Bifid uvula, Tetralogy of Fallot, Lobulated tongue, Vent... OMIM:174300
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Cystic pattern on pulmonary HRCT, Elevated bronchoalveolar lavage fluid neu... OMIM:610978
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, High palate, Cleft palate OMIM:616730
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft palate, Short stature, Holoprosencephaly, Ventricular septal defect, Pulmonary... OMIM:612530
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect, Growth delay, Recurrent respiratory infections OMIM:615508
Recombinant 8 Syndrome
Atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... ORPHA:96167
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Atrioventricular canal de... ORPHA:453499
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Recurrent upper respiratory tract infections, Severe postnatal growth ... ORPHA:3078
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Galloway-Mowat Syndrome 7
High palate, Cleft palate, Short stature, Ventricular septal defect, Dilated cardiomyopathy OMIM:618348
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Atrial septal defect, Cleft palate, Short stature, Ventricular septal ... OMIM:617063
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Ogden Syndrome
Ventricular septal defect, Postnatal growth retardation, Pulmonary artery stenosis, High, narrow ... ORPHA:276432
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Aarskog-Scott Syndrome