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Gene: Pierce1 MGI:1916577

Gene Summary

Name:

piercer of microtubule wall 1

Synonyms:

1700007K13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased grip strength		Pierce1^{tm2b(EUCOMM)Wtsi}	HOM		Early adult	2.54×10^-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

1700007K13Rik^{tm2b(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 70 images

1700007K13Rik^{tm2b(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Pierce1 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.

Human diseases associated with Pierce1 (0 diseases)
Human diseases predicted to be associated with Pierce1 (840 diseases)

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

The table below shows human diseases predicted to be associated to Pierce1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restri...	OMIM:611884
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n...	OMIM:615481
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:615451
Ciliary Dyskinesia, Primary, 3	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:608644
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk...	OMIM:614017
Ciliary Dyskinesia, Primary, 27	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:615504
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil...	OMIM:614874
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Ciliary Dyskinesia, Primary, 28	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:615505
Ciliary Dyskinesia, Primary, 32	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n...	OMIM:616481
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Ciliary Dyskinesia, Primary, 26	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas...	OMIM:615500
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Ciliary Dyskinesia, Primary, 14	Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta...	OMIM:613807
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ...	OMIM:615415
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia	OMIM:613193
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal...	OMIM:612444
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:615482
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia, Chronic sinu...	OMIM:614679
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Decreased nasal nitric o...	OMIM:618063
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of...	ORPHA:1666
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t...	OMIM:614935
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Ciliary Dyskinesia, Primary, 12	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n...	OMIM:612650
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi...	OMIM:608647
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron...	ORPHA:244
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si...	OMIM:620197
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitric...	OMIM:616037
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxi...	OMIM:615444
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Abnormal heart morphology, Atr...	ORPHA:401935
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis	OMIM:619881
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Ciliary ...	OMIM:606763
Ciliary Dyskinesia, Primary, 11	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro...	OMIM:612649
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta...	OMIM:613808
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Ciliary Dyskinesia, Primary, 6	Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis	OMIM:610852
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis	OMIM:617092
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias	OMIM:615985
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Urethral atresia, Pulmona...	OMIM:314390
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia	OMIM:612776
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao...	ORPHA:2516
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte...	OMIM:601355
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Bronchiectasis, Chronic rhinitis	OMIM:618801
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia	OMIM:215520
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Asplen...	OMIM:619657
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk...	OMIM:242670
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia	OMIM:616726
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tric...	ORPHA:1759
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neonatal death, Pe...	OMIM:601186
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Pate...	OMIM:267010
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Dextrocardia, Situs inversus totalis, Jaundice, Stage 5 chroni...	OMIM:613095
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Cleft...	ORPHA:1908
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Congenital alveola...	OMIM:608978
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Neurogenic bladder, Vertebral artery hypoplasia, Dextrocardia, Unilateral vertebra...	OMIM:613686
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas...	OMIM:202650
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis	OMIM:615434
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Patent ductus arteriosus, Midshaft hypospadias, High palate, Anal atresia	ORPHA:2863
Emanuel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal...	OMIM:609029
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Cleft palate	OMIM:611867
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent forame...	OMIM:600001
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Renal hypoplasia, Cleft palate, Renal cyst, Truncus ar...	OMIM:615583
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Abnormality of...	ORPHA:991
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, In...	ORPHA:99776
Emanuel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal...	ORPHA:96170
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,...	ORPHA:2257
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect	OMIM:253300
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Intestinal malrotation, ...	ORPHA:2538
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Ellis Van Creveld Syndrome	Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia...	ORPHA:289
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni...	OMIM:617516
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophageal fistula, Ureteral agenesis, Conge...	ORPHA:2437
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:614876
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Hypoplasia of penis, Microglossia	ORPHA:990
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona...	OMIM:615524
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia	OMIM:225050
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Cleft palate, Coarc...	ORPHA:2008
Joubert Syndrome	Situs inversus totalis, Encephalocele, Aganglionic megacolon	ORPHA:475
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Marden-Walker Syndrome	Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate,...	OMIM:248700
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Ciliary dyskinesia	ORPHA:1882
Poland Syndrome	Dextrocardia	OMIM:173800
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anter...	ORPHA:2315
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Pate...	OMIM:277380
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Hepatomegaly, Pulmonary edema, Left atrial enlargement, Interst...	ORPHA:75249
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ...	ORPHA:2461
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ...	OMIM:612946
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft pa...	OMIM:620210
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, R...	OMIM:264480
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Branchial fistula, Ventricular septal defect, High, narrow pala...	ORPHA:261330
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal varix, ...	OMIM:616028
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atrial...	OMIM:618330
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn...	ORPHA:2847
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho...	ORPHA:261197
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl...	ORPHA:567
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1918
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Pancreatic f...	ORPHA:564
Lambert Syndrome	Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi...	ORPHA:1296
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Myofiber di...	OMIM:619424
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Nemaline Myopathy 9	High palate, Ventricular septal defect, Cleft palate	OMIM:615731
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Abnormal pu...	OMIM:620233
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Cleft palate, Abnormal aortic morphology, Multiple renal cysts, Vesico...	ORPHA:1166
Isolated Cleft Lip	Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency	ORPHA:199302
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Coarctation of aorta, Micropenis, High palate, Atrioventricular canal defect	OMIM:618929
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast...	OMIM:619534
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ...	ORPHA:2970
Feingold Syndrome 2	Ventricular septal defect, Intestinal atresia	OMIM:614326
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula...	OMIM:614294
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Floating-Harbor Syndrome	Hypospadias, Celiac disease, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Conge...	OMIM:136140
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	High palate, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Right aortic arch, Transpositio...	OMIM:231060
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Catel-Manzke Syndrome	Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate	ORPHA:1388
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot...	ORPHA:1926
Floating-Harbor Syndrome	Hypospadias, Celiac disease, Tetralogy of Fallot, Renal cyst, Stage 5 chronic kidney disease, Nep...	ORPHA:2044
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Hypertrop...	OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t...	OMIM:619769
Renpenning Syndrome	Hypospadias, High, narrow palate, Cleft palate, Heterotaxy, Anal atresia	ORPHA:3242
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612561
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral...	ORPHA:1571
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe...	OMIM:616898
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia, Hypospadias	ORPHA:96097
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd...	ORPHA:96092
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total ano...	OMIM:115470
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Spina bifida, ...	ORPHA:508498
Digeorge Syndrome	High, narrow palate, Abnormal thymus morphology, High palate, Gastroesophageal reflux, Hypoplasia...	OMIM:188400
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Right atrial enlargement, Cirrhosi...	ORPHA:57777
Thoracoabdominal Syndrome	Hypospadias, Patent ductus arteriosus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transposi...	OMIM:313850
Diets-Jongmans Syndrome	Ventricular septal defect, Hypospadias, Heterotaxy, Interrupted inferior vena cava with azygous c...	OMIM:618846
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Branchial cyst, Ventricular septal defect, Unilateral renal agenesis...	ORPHA:508488
14Q11.2 Microdeletion Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge...	OMIM:612422
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef...	ORPHA:2476
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Dextrocardia, Cleft palate	ORPHA:220493
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Li-Campeau Syndrome	Ventricular septal defect, Gastrointestinal dysmotility, Patent ductus arteriosus, Atrial septal ...	OMIM:619189
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Hypospadias, Parach...	OMIM:618316
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic renal dysplasia	OMIM:613730
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Cleft...	OMIM:309500
Atelis Syndrome 1	Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept...	OMIM:620184
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int...	OMIM:243150
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida, Mitral valve prolapse	OMIM:211960
Arterial Calcification, Generalized, Of Infancy, 2	Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Arterial calcification, Right atri...	OMIM:614473
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney...	OMIM:173900
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Cleft palate, Hypoplastic ...	OMIM:220210
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Cleft palate, Renal cyst, Horseshoe kidney, L...	OMIM:614815
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop...	OMIM:618624
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa...	OMIM:243800
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo...	OMIM:601005
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, High palate, Pulmonic stenosis, Aortic va...	ORPHA:228410
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Anal atresia	ORPHA:3469
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Ventricular septal defect, Malrotation of small bowel, Pu...	ORPHA:139466
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus...	OMIM:606003
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno...	ORPHA:1677
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, High palate, Aortic...	OMIM:616166
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren...	ORPHA:500159
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
3C Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral...	ORPHA:7
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Clef...	OMIM:618494
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p...	OMIM:600987
8Q12 Microduplication Syndrome	Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Vesicoureteral reflux	ORPHA:228399
Mitral Valve Prolapse 1	High, narrow palate, High palate, Mitral valve prolapse	OMIM:157700
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat...	OMIM:614976
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Single coronary artery origin, Ventricular septal defe...	ORPHA:1708
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ...	ORPHA:1913
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Cleft palate, Aplasia/Hypoplasia of the thymus, Hyp...	ORPHA:1727
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Spina bif...	ORPHA:230839
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Ventricular septal defect, Cleft palate	ORPHA:94066
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
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
Loeys-Dietz Syndrome 4	Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi...	OMIM:614816
Tetrasomy 9P	Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B...	ORPHA:3310
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Patent ductus arteriosus, Narrow palate, Mitral valve prolapse, Right atri...	ORPHA:555877
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Neurooculorenal Syndrome	Dextrocardia, Unilateral renal agenesis, Intestinal malrotation, Stage 2 chronic kidney disease, ...	OMIM:620305
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ...	OMIM:614576
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Mitral valve prolapse	ORPHA:2233
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ...	OMIM:615355
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement	OMIM:617047
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl...	OMIM:618021
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A...	OMIM:619123
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren...	OMIM:617751
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Mitral valve prolapse	ORPHA:2183
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse	OMIM:247410
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Ehlers-Danlos Syndrome, Hypermobility Type	Mitral valve prolapse	OMIM:130020
Constricting Bands, Congenital	Encephalocele, Abnormal lung lobation, Cleft palate, Ectopia cordis, Bladder exstrophy	OMIM:217100
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Large placenta, Patent ductus arteriosus, Submuc...	ORPHA:1662
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia	ORPHA:2345
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bil...	OMIM:611134
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro...	OMIM:613404
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,...	ORPHA:99104
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Esophageal atresia, Patent ductus arteriosus, Abnorma...	OMIM:300514
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Ehlers-Danlos Syndrome, Classic Type, 1	Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Umbilical hernia, Recurrent low...	OMIM:130000
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl...	OMIM:616145
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,...	OMIM:613870
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec...	ORPHA:2255
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent duct...	ORPHA:452
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of...	OMIM:314400
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl...	OMIM:608149
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Horseshoe kidney	OMIM:218350
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio...	ORPHA:1923
Oculofaciocardiodental Syndrome	Intestinal malrotation, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, Mitr...	ORPHA:2712
Optic Atrophy 8	Mitral valve prolapse	OMIM:616648
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di...	ORPHA:730
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,...	ORPHA:95430
Fragile X Syndrome	Ascending tubular aorta aneurysm, Gastroesophageal reflux, Mitral valve prolapse	ORPHA:908
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart	ORPHA:2772
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Bladder diverticul...	ORPHA:536545
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Prominent superficial veins, Anomalous branches of internal carotid ...	ORPHA:363705
Trisomy 13	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,...	ORPHA:3378
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect	OMIM:314320
Medullary Thyroid Carcinoma	Neoplasm of the lung, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia	ORPHA:1332
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Abnormal mesentery morphology, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia	ORPHA:2256
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S...	OMIM:235255
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect	ORPHA:3369
Ring Chromosome 7 Syndrome	Hypospadias, Situs inversus totalis, Cleft palate, Median cleft palate, Bifid uvula	ORPHA:1449
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Submucous cleft h...	OMIM:300166
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent...	ORPHA:85202
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P...	OMIM:618950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplas...	OMIM:617660
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia	ORPHA:75389
Femoral-Facial Syndrome	Ventricular septal defect, Cleft palate, Micropenis, Gastroesophageal reflux, Polycystic kidney d...	OMIM:134780
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Cleft palate	ORPHA:398156
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Stickler Syndrome Type 1	Cleft palate, Mitral valve prolapse	ORPHA:90653
Cardiofaciocutaneous Syndrome 2	High palate, Mitral valve prolapse	OMIM:615278
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Phaver Syndrome	Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo...	ORPHA:2876
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Vesicoureter...	OMIM:301056
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Poland Syndrome	Encephalocele, Hypospadias, Dextrocardia, Vesicoureteral reflux, Renal hypoplasia, Acute leukemia...	ORPHA:2911
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Spina bifida o...	ORPHA:500
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Intestinal malrotation, Proteinuria	ORPHA:2143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Hypertrophic card...	OMIM:616897
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Vesic...	OMIM:606408
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis...	OMIM:269860
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Cleft palate	OMIM:617616
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal refl...	ORPHA:329224
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect	OMIM:602501
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Th...	OMIM:235510
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal medullary pyramid morphology, Ventricular septal defect, Recurrent aspiration pneumonia,...	ORPHA:79243
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	High palate, Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, Submucous cleft hard p...	OMIM:612863
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo...	OMIM:610978
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Pleuritis, Mitral valve prolapse	ORPHA:2848
Inverted Duplicated Chromosome 15 Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	ORPHA:3306
Congenital Contractural Arachnodactyly	Intestinal malrotation, Tracheoesophageal fistula, Mitral valve prolapse, Aortic aneurysm, High p...	ORPHA:115
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul...	OMIM:619418
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Ant...	OMIM:619980
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Central Core Disease	Mitral valve prolapse	ORPHA:597
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Abnormality of the ureter, Cholestasis, Nephrotic syndro...	ORPHA:52
Burn-Mckeown Syndrome	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Cleft palate, Atrial sept...	OMIM:608572
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:175050
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym...	ORPHA:1655
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven...	ORPHA:99106
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Urinary incontinence, Dysphagia, Mitral valve prolapse	ORPHA:98
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Methioninuria, Mitral valve prolapse, High palate, Stroke, Homocystinuria, Pan...	OMIM:236200
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate	OMIM:214300
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Cleft palate, Bilateral lung a...	OMIM:611812
Tyshchenko Syndrome	Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni...	OMIM:615102
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P...	OMIM:300963
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast...	ORPHA:453499
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala...	ORPHA:2369
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag...	OMIM:619909
Velocardiofacial Syndrome	Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat...	OMIM:192430
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Velopharyngeal in...	OMIM:613680
Frank-Ter Haar Syndrome	Umbilical hernia, Mitral valve prolapse	ORPHA:137834
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Hypospadias, Intestinal malrotation, Coarctat...	OMIM:617602
Chops Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Splenomegaly, Anomalous...	OMIM:616368
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef...	ORPHA:26793
Jansen-De Vries Syndrome	Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f...	OMIM:615668
Fragile X Syndrome	Mitral valve prolapse	OMIM:300624
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Cherry red spot of the macula, Mitral valve prolapse	ORPHA:309155
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo...	ORPHA:2473
Orofaciodigital Syndrome V	Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ...	OMIM:174300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Anterior encephalocele	OMIM:601357
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Dental Anomalies And Short Stature	Mitral valve prolapse	OMIM:601216
Down Syndrome	Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca...	OMIM:190685
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, High pala...	OMIM:201000
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Abnormal cerebral vascular morpholo...	ORPHA:758
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni...	OMIM:612528
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Umbilical hernia...	ORPHA:369891
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios...	ORPHA:354
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo...	OMIM:601808
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de...	ORPHA:261494
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Atrial septal defect, Patent fora...	OMIM:614261
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Cleft palate, Umbilical h...	OMIM:612938
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Fg Syndrome Type 1	Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Mitral ...	ORPHA:93932
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,...	ORPHA:2328
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate	OMIM:609654
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo...	OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ...	OMIM:617159
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer...	ORPHA:436252
Woods Syndrome	Ventricular septal defect	OMIM:615236
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosis	OMIM:615673
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Mitral valve prolapse	OMIM:225310
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot...	ORPHA:1199
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr...	OMIM:613001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Gastro...	ORPHA:457193
Camurati-Engelmann Disease, Type 2	Mitral valve prolapse	OMIM:606631
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Mitral valve prolapse	OMIM:225320
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mitral valve...	ORPHA:99103
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Tracheoe...	ORPHA:2745
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mit...	ORPHA:251066
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption...	ORPHA:912
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial septal defect, Umbilical...	OMIM:612582
Classic Multiminicore Myopathy	Mitral valve prolapse, High palate, Right ventricular hypertrophy	ORPHA:324604
Cooper-Jabs Syndrome	Anteriorly placed anus, Umbilical hernia, Ventricular septal defect	ORPHA:1488
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Recurrent upper respiratory tract infections, Ventricular septal defect	ORPHA:3078
3P25.3 Microdeletion Syndrome	Ventricular septal defect, High, narrow palate, Pyloric stenosis, Patent ductus arteriosus, Cleft...	ORPHA:435638
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Abnormal heart morphology, Gastroesophageal reflux, Dysph...	ORPHA:494344
Diaphanospondylodysostosis	Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Cystic renal dys...	OMIM:608022
Cap Myopathy	Aortic root aneurysm, High palate, Mitral valve prolapse	ORPHA:171881
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia	OMIM:145420
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Cardiospondylocarpofacial Syndrome	High, narrow palate, Mitral valve prolapse	ORPHA:3238
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Patent ductus arter...	OMIM:220500
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Maternal Phenylketonuria	Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H...	ORPHA:2209
Costello Syndrome	Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r...	ORPHA:3071
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Aortic valve stenosis, Gastrointestinal angiodysplasia, Mitral valve...	OMIM:193400
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Carotid artery stenosis, Mitral valve prolapse, Aortic root aneurysm...	OMIM:618000
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux	OMIM:615879
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Abnormality of the ureter, Ventricular septal defect, Cleft palate	ORPHA:1770
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ...	ORPHA:411709
Periventricular Nodular Heterotopia 7	Ventricular septal defect, Cleft palate	OMIM:617201
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Renovascular hypertension, Mitral valve...	OMIM:264800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Mitral stenosis, Dysphagia, Subvalvular aortic stenosis	OMIM:619461
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, High ...	OMIM:616449
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent ...	OMIM:300472
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno...	OMIM:614114
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cyst, Renal cortical cysts, Cleft palate, Coar...	ORPHA:1692
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Seckel Syndrome 9	Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ...	OMIM:616777
Codas Syndrome	Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect	ORPHA:1458
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss...	ORPHA:1900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia, Patent ductus ar...	ORPHA:77298
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Atherosclerosis, Left atrial enlargement, Right atrial enlargement	OMIM:614008
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Bone marrow...	OMIM:609053
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid...	ORPHA:404440
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin...	OMIM:609192
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Pat...	ORPHA:2092
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Cleft ...	OMIM:600460
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Hepatic steatosis, Viral hepatitis, Abnormal erythrocyte enzyme le...	ORPHA:101330
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse, High palate, Umbilical hernia, Ureteral triplica...	OMIM:104350
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Gastroesophageal reflux, High palate, Mitral valve prolapse	OMIM:300986
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Intellectual Developmental Disorder, Autosomal Dominant 47	Gastroesophageal reflux, Ventricular septal defect	OMIM:617635
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Me...	ORPHA:209905
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Protruding...	OMIM:214100
King-Denborough Syndrome	High palate, Ventricular septal defect	OMIM:619542
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Meningocele, Cleft palate, Renal cyst, Intracranial hem...	OMIM:614424
Brachydactyly, Type B1	Micropenis, Ventricular septal defect	OMIM:113000
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle...	OMIM:616652
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Cohen Syndrome	High, narrow palate, Neutropenia, Leukopenia, Mitral valve prolapse	OMIM:216550
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Patent ductus arteriosu...	ORPHA:163956
Ogden Syndrome	High, narrow palate, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:276432
Alg9-Cdg	Hepatomegaly, Villous atrophy, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Per...	ORPHA:79328
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis,...	ORPHA:797
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia	OMIM:614961
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas...	OMIM:118450
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, High palate, Atrial...	ORPHA:230851
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, High palate, Pulmonary artery atresia, Paten...	OMIM:620113
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ...	ORPHA:457279
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate	ORPHA:261190
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Micr...	OMIM:263520
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val...	OMIM:609942
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr...	ORPHA:96167
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu...	OMIM:617063
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, ...	ORPHA:261344
Warsaw Breakage Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Pallister-Hall Syndrome	Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kidney, Patent ductu...	OMIM:146510
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Atrial...	OMIM:244300
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Kury-Isidor Syndrome	High palate, Ventricular septal defect, Hydronephrosis	OMIM:619762
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ...	ORPHA:1780
Aase-Smith Syndrome I	Ventricular septal defect, Cleft palate	OMIM:147800
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, High, narrow palate, Recurrent pneumonia, Cleft palate, F...	ORPHA:464738
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Noonan Syndrome 13	Atrial septal defect, Gastroesophageal reflux, High palate, Mitral valve prolapse	OMIM:619087
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cardiomyopathy, Dysphagia, Mitral valve prolapse	OMIM:258450
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T...	OMIM:153400
Jacobsen Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Intest...	ORPHA:2308
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Bilateral renal h...	ORPHA:49
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Aganglio...	OMIM:229850
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation	OMIM:219730
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria	OMIM:616901
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Hypospadias, Cleft palate, Atrial septal defect, Hepatic steatosis	ORPHA:254346
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Hypospadias, Submucous cleft hard palate, Horseshoe kidney, Vesicouret...	OMIM:619103
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias	ORPHA:217346
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Rectourethral fistula, Cleft palate, Congenital posterior...	OMIM:300000
De Barsy Syndrome	Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas...	ORPHA:2962
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve...	OMIM:619472
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, High palate, Ventricular septal defect	OMIM:617452
Neonatal Marfan Syndrome	High, narrow palate, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubu...	ORPHA:284979
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect	OMIM:617061
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Cleft palate, High palate, Gastroesophageal reflux, Micropenis, Penosc...	OMIM:617164
Chromosome 1Q41-Q42 Deletion Syndrome	High palate, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate	OMIM:612530
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis	OMIM:614185
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Mitral valve prolapse	ORPHA:1563
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, M...	OMIM:130720
Heart And Brain Malformation Syndrome	High, narrow palate, Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux	OMIM:616920
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney	ORPHA:166035
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Sotos Syndrome	Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus...	OMIM:117550
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Hypospadias, High, narrow palate, Patent ductus arteriosus, Narrow pal...	OMIM:158170
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Pulmonary artery stenos...	OMIM:300998
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis, Intracranial hemorrhage	ORPHA:369929
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Micropenis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Duane-Radial Ray Syndrome	Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Vascular dilatation, Vesicourete...	OMIM:607323
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate	ORPHA:52055
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Pyloric stenosis, Pneumothorax, Mitral valve prolapse, Biventricular...	OMIM:617402
19P13.3 Microduplication Syndrome	Gastroesophageal reflux, Ventricular septal defect, Cleft palate	ORPHA:447980
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ...	OMIM:300989
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Dysphagia	OMIM:618325
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Reticuloc...	OMIM:613309
Marfan Syndrome	Mitral valve calcification, Spontaneous pneumothorax, High, narrow palate, Descending aortic diss...	ORPHA:558
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft...	OMIM:100300
Brittle Cornea Syndrome 1	Mitral valve prolapse	OMIM:229200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen...	ORPHA:500095
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, High palate, Ventricular septal defect	ORPHA:505237
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, Horseshoe kidney,...	ORPHA:140952
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Ves...	OMIM:610443
Coffin-Siris Syndrome	Ventricular septal defect, Hypospadias, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper...	ORPHA:1465
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo...	OMIM:620025
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
C Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Renal cortical cysts, High palate	OMIM:211750
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Rubinstein-Taybi Syndrome 1	High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal...	OMIM:180849
Distal Deletion 19P	Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va...	ORPHA:96129
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc...	ORPHA:79329
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Vesicoureteral refl...	OMIM:616894
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, T...	OMIM:301030
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Ankyloglossia	OMIM:618874
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Median cleft lip and palate, Ventricular septal defect, Abnor...	ORPHA:2162
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sul...	OMIM:253200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft palate, Micropenis	OMIM:106260
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Carotid artery stenosis, Pericardial effusion, Narrow palate, Mitral valve prolapse, ...	ORPHA:536532
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Gastroesophageal reflux, Mitral valve prolapse	ORPHA:449291
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy...	OMIM:222448
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop...	ORPHA:124
Noonan Syndrome 14	High, narrow palate, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy, Lymph...	OMIM:619745
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Vesicoureteral reflux,...	OMIM:605039
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Hypos...	ORPHA:955
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du...	ORPHA:79345
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Macroglossia, ...	OMIM:614609
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Cleft palate, Mitral valve prolapse	OMIM:108300
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Esophageal atresia, Ventricular septal defect, Cleft palate	OMIM:610536
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Micropenis, Hydr...	OMIM:617798
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Renal cyst, Stroke-like epis...	ORPHA:137675
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, High palate, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Gastroesophageal reflux, Spina bifida occulta, Ventricular septal defect	OMIM:617360
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, Aortic root aneurysm, A...	OMIM:245600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Elevated circulating...	OMIM:280000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Elevated c...	OMIM:614866
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Protruding tongue, Reduced alpha/beta synthesis ratio, Hy...	OMIM:301040
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ...	ORPHA:1507
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Mitral valve prolapse, Nephrot...	OMIM:601776
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia...	OMIM:617107
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Gastroesophageal reflux, Atrial...	OMIM:270400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f...	OMIM:620024
Radio-Tartaglia Syndrome	Ventricular septal defect, High, narrow palate, High palate, Gastroesophageal reflux, Dysphagia	OMIM:619312
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Hi...	ORPHA:96191
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Cleft palate, Anteriorly placed anus, C...	OMIM:309801
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H...	OMIM:618748
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft pa...	OMIM:610759
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft palat...	OMIM:300712
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, High palate, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Cornelia De Lange Syndrome 1	Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, High, narrow pala...	OMIM:122470
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Pyloric stenosis, Atria...	OMIM:147791
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micropenis, Ventricular septal defect	OMIM:620073
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc...	ORPHA:1393
Loeys-Dietz Syndrome 5	Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ...	OMIM:615582
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Ventricular septal defect, Eosinophilia, Spina bifida,...	OMIM:274000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Thrombocytopenia, Patent ductus arter...	ORPHA:163979
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Pyloric stenosis, Pneumothorax, Mitral valve prol...	OMIM:218040
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Lateral Meningocele Syndrome	Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia	ORPHA:2789
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cleft palate, Mit...	OMIM:151100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular dilatation, Inflammation of the large intestine, Myeloproliferative disorder, R...	ORPHA:70591
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular volume, High palate...	ORPHA:261250
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, High, narrow palate, Mitral valve pr...	ORPHA:193
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Cutis Laxa, Autosomal Dominant 1	Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Hand-Foot-Genital Syndrome	Ventricular septal defect, Hypospadias, Abnormality of the urethra, Vesicoureteral reflux, Ureter...	ORPHA:2438
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili...	ORPHA:508533
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect	OMIM:610832
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,...	OMIM:236680
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral...	OMIM:194050
Melnick-Needles Syndrome	Recurrent respiratory infections, Ureteral stenosis, Cleft palate, Mitral valve prolapse, Stillbi...	OMIM:309350
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Cleft palate, ...	OMIM:618454
Frontometaphyseal Dysplasia 1	Hydroureter, Cor pulmonale, Cleft palate, Mitral valve prolapse, High palate, Hydronephrosis	OMIM:305620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, Ascending ...	ORPHA:536467
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone...	OMIM:619525
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic...	ORPHA:444072
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Aortic root aneurysm, High palate, Mitral valve prolapse	OMIM:616914
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Hi...	OMIM:618268
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr...	OMIM:249420
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H...	OMIM:301043
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Recurrent low...	OMIM:619229
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Pyloric stenosis, Renal hypoplasia, Ectopic anus,...	ORPHA:3138
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, R...	OMIM:619575
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, High palate, Umbilical hernia, Aor...	OMIM:182212
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy...	ORPHA:353281
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
3Q29 Microduplication Syndrome	High palate, Ectopic anus, Ventricular septal defect, Cleft palate	ORPHA:251038
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Es...	OMIM:192350
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Phelan-Mcdermid Syndrome	Ventricular septal defect, Patent ductus arteriosus, High palate, Gastroesophageal reflux, Polycy...	OMIM:606232
Marfan Syndrome	Pulmonary artery dilatation, Bicuspid aortic valve, Pneumothorax, Mitral annular calcification, N...	OMIM:154700
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Exaggerated median tong...	OMIM:312870
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
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Bifid tongue, Abnormal heart morphology,...	ORPHA:97360
Trisomy 18	Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa...	ORPHA:3380
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochrom...	ORPHA:97214
Shprintzen-Goldberg Syndrome	High, narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Abnormal aortic valve morpho...	ORPHA:2462
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Ectopic kidney, Thrombocytopenia, Reticulocytopenia, Hor...	OMIM:227645
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren...	OMIM:617140
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi...	OMIM:619268
Leigh Syndrome	Ventricular septal defect, Gastrointestinal dysmotility, Neutropenia, Lacticaciduria, Methylmalon...	ORPHA:506
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Nephrolithiasis, Desmoid tumors, Mitral ...	ORPHA:137605
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, P...	OMIM:300373
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec...	ORPHA:373
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Renal tubular acidosis, Macroglossia, High p...	OMIM:613457
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, High, narrow palate, Horseshoe kidney, Cleft palate...	OMIM:272950
3Mc Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Atrial septal defect, Spina bi...	OMIM:257920
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Ventricular ...	ORPHA:2729
16P13.11 Microdeletion Syndrome	Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Cleft palate	ORPHA:261236
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Patent ductu...	ORPHA:464306
Enthesitis-Related Juvenile Idiopathic Arthritis	Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology	ORPHA:85438
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Submucous ...	ORPHA:3047
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Aortic val...	OMIM:277600
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Mitral valve prolapse	OMIM:166200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena...	ORPHA:464311
Cerebrocostomandibular Syndrome	Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Patent ductus arteri...	OMIM:117650
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Renal cyst, Coarctation of aorta	OMIM:617260
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta, Ectopic kidney	ORPHA:268249
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate,...	OMIM:256520
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Umbilical he...	OMIM:611962
Charge Syndrome	Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Micropenis, Aplasi...	OMIM:214800
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Anal stenosis, Ventricular septal defect, Intestin...	OMIM:147920
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Brittle Cornea Syndrome	Cleft palate, Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Apert Syndrome	Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Cleft palate, ...	OMIM:101200
Marshall-Smith Syndrome	Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Recurrent upper respirator...	OMIM:602535
Spondyloocular Syndrome	Atrial septal defect, Mitral valve prolapse, Duodenal ulcer, Dysplastic aortic valve	OMIM:605822
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Furrowed tongue, Hi...	OMIM:616975
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus...	ORPHA:261337
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear...	ORPHA:444077
Atypical Werner Syndrome	Premature arteriosclerosis, Hepatic steatosis, Prominent superficial veins, Abnormal cerebral vas...	ORPHA:79474
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th...	ORPHA:3474
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Intestinal malrotation, Coarctation of aorta, High palate, Atrial sept...	OMIM:244450
Trichothiodystrophy	Ventricular septal defect, Recurrent bronchopulmonary infections, High, narrow palate, Increased ...	ORPHA:33364
Codas Syndrome	Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A...	OMIM:600373
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Narrow palate, High palate, Ascending aortic...	OMIM:608328
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Intestinal malrotation, Hiatus hernia, Cerebral hemorrhag...	OMIM:616682
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Intestinal pseudo-obstruction, Dysphagia, Mitral valve prolapse	OMIM:607459
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, High, narrow palate, Mitral valve prolapse, Abnormal heart morp...	OMIM:615873
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Aortic dissection, Cerebral hemorrhage, ...	ORPHA:666
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy...	OMIM:163950
Turnpenny-Fry Syndrome	Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, High palate, G...	OMIM:618371
Rabson-Mendenhall Syndrome	Ventricular septal defect, Long penis, Furrowed tongue, Nephrocalcinosis, Cardiomyopathy, Macrogl...	ORPHA:769
Mosaic Trisomy 20	Ventricular septal defect, Dysplastic tricuspid valve, Cleft palate, Horseshoe kidney, Abnormal m...	ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa...	OMIM:300967
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Renal c...	OMIM:102500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	High palate, Micropenis, Ventricular septal defect, Cleft palate	ORPHA:251028
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur...	ORPHA:96121
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ...	ORPHA:363958
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Gastrointestinal infarctions, Peripheral arteriovenous fistula, Hypospadias,...	ORPHA:286
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Protruding tongue	OMIM:212066
Geleophysic Dysplasia 1	Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis	OMIM:231050
Classical Ehlers-Danlos Syndrome	Hiatus hernia, Rectal prolapse, Mitral valve prolapse, Bladder diverticulum, Aortic root aneurysm...	ORPHA:287
Keutel Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery hypoplasia, Pul...	OMIM:245150
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Intestinal...	OMIM:135900
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Cleft palate	OMIM:178110
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, High palate, Pulmoni...	ORPHA:363700
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Dilated cardiomyopathy, Mitral valve prolapse...	ORPHA:2556
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Aganglionic megacolon, Ventricular septal defect	OMIM:609460
Omodysplasia 1	Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septal...	ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto...	OMIM:607872
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal defect, Umbili...	ORPHA:1519
Arboleda-Tham Syndrome	Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Secundum atr...	OMIM:616268
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Microphthalmia, Syndromic 3	Ventricular septal defect, Hypospadias, Esophageal atresia, Patent ductus arteriosus, Micropenis	OMIM:206900
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Ventricular septal defect, High, narrow palate, Macroglossia, Pulmonic stenosis	ORPHA:488632
Larsen Syndrome	Ventricular septal defect, Cleft palate, Atrial septal defect, Spina bifida occulta, Aortic aneurysm	OMIM:150250
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Epispadias, Patent ductu...	OMIM:615948
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, Enuresis, High, narrow palate, Mitral valve prolapse	ORPHA:369950
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Hypospadias, Aganglionic megacolon, Pyloric st...	OMIM:235730
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Ventricular septal defect, Gastroesophageal reflux	OMIM:614653
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Oculodentodigital Dysplasia	Umbilical hernia, Neurogenic bladder, Ventricular septal defect, Cleft palate	ORPHA:2710
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle...	ORPHA:466791
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ascending aorta hypoplasia, High palate, Micropenis, Pelvic kidney, Hepatic steatosis, Hemolytic ...	OMIM:619503
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate	ORPHA:251014
Multicentric Osteolysis, Nodulosis, And Arthropathy	Mitral valve prolapse	OMIM:259600
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car...	OMIM:607721
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Dilatation of the ventricular ...	ORPHA:459070
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Malrotation of small bowe...	OMIM:606170
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, High palate, Umbilical hernia, Micropenis, Patent foramen ovale	OMIM:613884
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Abnormal pulmonary valve morphology, Unilateral renal agenesis, Hyposp...	ORPHA:268261
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Unilateral renal agenesis, Velopharyngeal insuf...	OMIM:154400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag...	OMIM:301044
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Impaired neutrophil chemotaxis, Pericar...	ORPHA:79318
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Large placenta, Pulmonary artery stenosi...	ORPHA:96334
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Aganglionic me...	ORPHA:821
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar...	OMIM:210710
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Ureterocele, Umbilical hernia, Micropenis	ORPHA:1934
Pallister-Hall Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ...	ORPHA:672
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Cleft palate, Coarctat...	OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef...	OMIM:608670
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, High, narrow palate, Pyloric stenosis, Reno...	ORPHA:3472
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal...	OMIM:143095
Stickler Syndrome	Recurrent respiratory infections, Cleft palate, Mitral valve prolapse, Glossoptosis, Macroglossia...	ORPHA:828
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Transient ischemic attack, ...	ORPHA:740
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate	ORPHA:1071
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula	OMIM:613458
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,...	OMIM:164210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valv...	OMIM:619475
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, F...	OMIM:268300
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Hamartoma of tongue, Epispadias, Patent ductus arteriosus, Aplasia of ...	ORPHA:434179
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate, Atrial septal defect	OMIM:271640
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Recurrent pneumonia, Bifid uvula, High palate, Umbilical hernia, Hydro...	OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Vesicoureteral reflux, ...	ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Patent ductus a...	OMIM:619522
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Malrotation of small bowel, Biliary tra...	OMIM:194190
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Bilobate gallbladder, Patent ductus...	OMIM:261540
Proboscis Lateralis	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis...	ORPHA:141099
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ...	ORPHA:199
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Gastroesophageal reflux, Ventricular septal defect, Cleft palate	ORPHA:513456
Ulnar-Mammary Syndrome	Anal stenosis, Ventricular septal defect, Pyloric stenosis, Micropenis, Anal atresia	OMIM:181450
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Pallister-Killian Syndrome	Anal stenosis, Ventricular septal defect, Hypospadias, Intestinal malrotation, Patent ductus arte...	OMIM:601803
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Pyloric stenosis, Cardiomyopathy, High palate, Aspiration...	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 Pierce1

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 Pierce1.

No publications found that use IMPC mice or data for Pierce1.

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MGI Allele	Allele Type	Produced
Pierce1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pierce1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Pierce1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pierce1^{tm2b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pierce1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pierce1 MGI:1916577

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

DSS Histology

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pierce1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data