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Gene: Daw1 MGI:1923089

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dynein assembly factor with WDR repeat domains 1
Synonyms:
4930563E19Rik,  b2b1584Clo,  Wdr69,  4933429D11Rik,  b2b1116Clo

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Daw1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Daw1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... OMIM:615451
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... OMIM:615482
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si... OMIM:616037
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615504
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613807
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615505
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
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615500
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:300991
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... OMIM:613193
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr... OMIM:618254
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:608647
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... OMIM:620197
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:617092
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Po... OMIM:612776
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613808
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... OMIM:619608
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Mirror Movements 3
Situs inversus totalis OMIM:616059
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni... OMIM:270100
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... ORPHA:185
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Double... ORPHA:3426
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... OMIM:612649
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Respiratory insufficiency, Duodenal stenosis,... ORPHA:1759
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... OMIM:202650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... OMIM:314390
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... ORPHA:2257
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili... OMIM:610852
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula... OMIM:619123
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... OMIM:600987
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... ORPHA:3304
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art... OMIM:601186
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:614034
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Situs inversus totalis, Cleft palate, Pulmonary artery atresia, Tetral... ORPHA:1908
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... OMIM:613759
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Congenital Gerbode Defect
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... ORPHA:99095
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Respiratory distress ORPHA:990
Stormorken Syndrome
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy... OMIM:185070
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia ORPHA:2863
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... OMIM:617022
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Nemaline Myopathy 9
Cleft palate, High palate, Ventricular septal defect, Respiratory insufficiency OMIM:615731
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Perimembranous ventricular sep... OMIM:611376
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Cholestasis, Perimembranous ventricular... OMIM:608104
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Respir... OMIM:618804
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus... ORPHA:99776
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Joubert Syndrome
Aganglionic megacolon, Apnea, Episodic tachypnea, Situs inversus totalis, Abnormal pattern of res... ORPHA:475
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Absent gallbladder, Ventricular septal... OMIM:600001
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va... OMIM:618316
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis OMIM:618205
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Muscular ventricular septal defect, Velopharyngeal insufficiency, Abnor... ORPHA:363444
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... OMIM:601612
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis ORPHA:306550
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Glossoptosis OMIM:614876
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Asthma, Pulmonic stenosis, Atrial septal defect OMIM:614262
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... ORPHA:991
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Respiratory insufficiency, Cleft palate, Abnormal aortic morphology, T... ORPHA:1166
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Renpenning Syndrome
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia ORPHA:3242
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency ORPHA:1909
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Jaundice, Neonatal ... OMIM:608779
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... OMIM:620210
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... ORPHA:1667
Poland Syndrome
Dextrocardia OMIM:173800
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... OMIM:614886
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Chromosome 9P Deletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... OMIM:158170
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi... OMIM:309801
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... OMIM:614294
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Patent duc... OMIM:612561
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... ORPHA:3092
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, Intracranial hemorrhage, Leukop... OMIM:617053
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta OMIM:618929
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... ORPHA:2461
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... OMIM:615524
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... ORPHA:2315
Catel-Manzke Syndrome
Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate ORPHA:1388
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Patent ductus... OMIM:249000
Halperin-Birk Syndrome
Pseudobulbar paralysis, Perimembranous ventricular septal defect, Gastroesophageal reflux, High p... OMIM:618651
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, High palate, Pulmonary ... OMIM:612946
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Situs inversus totalis, Congenital hepatic fibrosis, Asple... ORPHA:564
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Apert Syndrome
Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Cleft palate, ... OMIM:101200
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... ORPHA:261197
Marden-Walker Syndrome
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... OMIM:248700
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot OMIM:613630
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent pneumonia, Recurren... OMIM:619769
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Leukopenia, Pulmonic sten... OMIM:301056
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... OMIM:616589
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... OMIM:616145
Colonic Atresia
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... ORPHA:1198
Congenital Tracheal Stenosis
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... ORPHA:141127
14Q11.2 Microdeletion Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... OMIM:618846
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent pharyngitis, Vas... ORPHA:397
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Apnea, Respiratory failure OMIM:616277
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function, Coarctation of the descending aor... ORPHA:79321
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Abnormal heart morpholog... ORPHA:401935
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Apnea, Dextrocardia, Cleft palate, Abnormal pattern of respiration ORPHA:220493
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, Cervical ly... ORPHA:2331
Proteus Syndrome
Splenomegaly, Lymphangioma, Venous malformation OMIM:176920
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... OMIM:616898
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Ventricular septal defect OMIM:616816
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... ORPHA:33276
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... OMIM:618624
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Reduced alpha/beta synthesis ratio, Hypochromic mic... OMIM:301040
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology ORPHA:96092
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... OMIM:606003
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia ORPHA:3469
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic... OMIM:300855
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... ORPHA:2847
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Gastrointestinal dysmotility, Atrial septal ... OMIM:619189
Czeizel-Losonci Syndrome
Tracheoesophageal fistula, Pulmonary hypoplasia, High palate, Dextrocardia ORPHA:2437
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... ORPHA:90308
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... ORPHA:290
Rubinstein-Taybi Syndrome 1
Respiratory distress, High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High pa... OMIM:180849
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Abnormal aortic morphology, Transposition... ORPHA:1926
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Thrombocytopenia, Splenomegaly, Bronchiolitis, Recurrent aspira... OMIM:230900
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Atelis Syndrome 1
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, High palate, Atrial septal defect,... OMIM:620184
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Cleft palate, High palate, Atrial septal defec... OMIM:309500
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:94066
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Pulmona... OMIM:601005
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Perim... ORPHA:508498
Fumarase Deficiency
Necrotizing enterocolitis, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hi... OMIM:606812
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Cleft palate, Ectopic anus ORPHA:2476
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Multifocal Atrial Tachycardia
Ventricular septal defect, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal defect, Hypertrop... ORPHA:3282
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aortic morphology, ... ORPHA:2059
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... ORPHA:2970
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia ORPHA:49827
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... ORPHA:284169
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries OMIM:313850
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Pyloric stenosis, Dextrocardia ORPHA:1571
Charge Syndrome
Atrial septal defect, Lymphopenia, Overriding aorta, Ventricular septal defect, Anal stenosis, Se... OMIM:214800
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast... ORPHA:904
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenos... ORPHA:83617
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Abnormal B cell morphology, P... OMIM:618223
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... ORPHA:314588
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... ORPHA:261311
Digeorge Syndrome
Hepatic steatosis, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenom... OMIM:188400
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Median cleft lip and palate, Th... ORPHA:699
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal heart morphology, Persiste... OMIM:618494
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Esophageal Atresia
Respiratory distress, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophage... ORPHA:1199
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... OMIM:614976
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... OMIM:615355
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Portal hypertension, Malabsorption,... OMIM:243800
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... ORPHA:452
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bilateral lun... OMIM:618021
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... OMIM:612474
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect OMIM:314320
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... ORPHA:7
Pseudoaminopterin Syndrome
Asplenia, Patent foramen ovale ORPHA:221120
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Abnorma... OMIM:300514
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect ORPHA:3369
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy ORPHA:99868
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... ORPHA:2962
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation ORPHA:137608
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, High palate, Atrial... OMIM:618142
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Ring Chromosome 7 Syndrome
Situs inversus totalis, Cleft palate, Bifid uvula, Median cleft palate ORPHA:1449
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the tonsils, Retin... ORPHA:567
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Es... OMIM:614576
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Isolated Klippel-Feil Syndrome
Anal atresia, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:2345
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypopla... ORPHA:1335
Joubert Syndrome 18
Lobulated tongue, Intrahepatic biliary atresia, Ventricular septal defect, Cleft palate OMIM:614815
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Patent ductus a... ORPHA:457193
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect OMIM:602501
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Tetrasomy 9P
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Jaundice, B... ORPHA:3310
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... OMIM:602782
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dyspnea, Dilated... OMIM:614921
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracer... ORPHA:536545
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect OMIM:613730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Asplenia, Abn... ORPHA:261537
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... OMIM:615102
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Anomalous... OMIM:616368
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Recurrent respiratory infections,... ORPHA:17
Cooper-Jabs Syndrome
Anteriorly placed anus, Ventricular septal defect, Respiratory insufficiency ORPHA:1488
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Neonatal respiratory distress, Ventricular septal defect, Recurrent aspi... ORPHA:79243
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Cleft pala... ORPHA:96170
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Hep... ORPHA:84064
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Coarctation of aorta,... OMIM:617602
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Ventricular septal defect, Episodic tachypnea, Pneumonia, Per... ORPHA:26793
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate OMIM:609654
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Asplenia, Patent ductus arteriosus, Abnormal heart... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f... OMIM:615668
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Patent... ORPHA:1708
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Inverted Duplicated Chromosome 15 Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis OMIM:615630
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasia,... OMIM:616777
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Cleft palate ORPHA:398156
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Thrombocy... OMIM:619980
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Jansen-De Vries Syndrome
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:300712
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P... OMIM:300963
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
3P25.3 Microdeletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft... ORPHA:435638
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Filippi Syndrome
Ventricular septal defect OMIM:272440
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Gastroesophageal refl... ORPHA:329224
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... ORPHA:227990
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneu... ORPHA:1662
Woods Syndrome
Ventricular septal defect OMIM:615236
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P... OMIM:618950
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation ORPHA:2143
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Intrac... ORPHA:163979
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal... OMIM:618870
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm... OMIM:611812
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... OMIM:617159
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... ORPHA:227982
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... ORPHA:354
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts OMIM:263630
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S... OMIM:235255
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Bifid uvula, Cleft palate OMIM:608572
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal veno... ORPHA:1900
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art... ORPHA:730
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, Pulmonary hyp... OMIM:616897
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce... OMIM:610168
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Varicose Veins
Varicose veins OMIM:192200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... ORPHA:353281
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Ventricular septal defect, Recurrent upper respiratory tract infections ORPHA:3078
Familial Visceral Myopathy
Aganglionic megacolon, Abdominal situs inversus, Cleft palate ORPHA:2604
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
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulm... ORPHA:261494
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency OMIM:613680
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Ret... OMIM:613309
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... OMIM:614261
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Cleft palate OMIM:617201
Opitz Gbbb Syndrome
Ventricular septal defect, Tracheomalacia, Patent foramen ovale, Patent ductus arteriosus, Trache... ORPHA:2745
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:615583
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Cleft palate, Hypertrophi... OMIM:612938
Trisomy 13
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:3378
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... OMIM:153400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect OMIM:601357
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect OMIM:617635
Aase-Smith Syndrome I
Ventricular septal defect, Cleft palate OMIM:147800
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Pate... OMIM:601808
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral... OMIM:620025
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula ORPHA:77298
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Cleft palate, Gastroesophageal reflux ORPHA:447980
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Pulmonary... ORPHA:369929
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial septal defect, Tetralogy... OMIM:612582
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertensi... OMIM:619503
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... OMIM:201000
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Gastrointestinal ... ORPHA:436252
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art... OMIM:615474
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Esophageal atresia, Cleft palate, Atrial septal ... OMIM:610536
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Atrial septal def... ORPHA:2008
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal pigmentation, Jau... OMIM:208085
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Patent foramen o... ORPHA:369891
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Malabsorption, Pyloric stenosis, Jaundice, Respiratory i... ORPHA:912
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... ORPHA:404440
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:616730
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... ORPHA:1780
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect OMIM:615673
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... ORPHA:2473
King-Denborough Syndrome
High palate, Ventricular septal defect OMIM:619542
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Gast... ORPHA:453499
Proteus-Like Syndrome
Venous insufficiency, Splenomegaly, Thymus hyperplasia, Bronchogenic cyst ORPHA:2969
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Gastr... OMIM:616449
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym... ORPHA:1655
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:261190
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia OMIM:614961
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Atrial septal defect OMIM:220500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jaundice, Cholestatic liver diseas... OMIM:613404
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Cleft palate OMIM:611134
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:52055
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno... OMIM:614114
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Ventricular septal defect, Dysphagia, Abnormal heart morphology ORPHA:494344
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... OMIM:619418
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo... ORPHA:508488
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:457279
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation ORPHA:168984
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Whim Syndrome
Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t... ORPHA:51636
Ogden Syndrome
High, narrow palate, Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation, Cleft palate OMIM:217100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa... ORPHA:353277
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort... ORPHA:96334
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
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect OMIM:617061
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... ORPHA:96167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, High palate, Ventricular septal defect OMIM:617452
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
Poland Syndrome
Atrial septal defect, Abnormality of the liver, Dextrocardia, Acute leukemia ORPHA:2911
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Pul... OMIM:164210
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent... OMIM:609053
Sotos Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se... OMIM:117550
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:618348
Opitz Gbbb Syndrome
Ventricular septal defect, Rectourethral fistula, Cleft palate, High palate, Gastroesophageal ref... OMIM:300000
Kury-Isidor Syndrome
High palate, Ventricular septal defect OMIM:619762
Costello Syndrome
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r... ORPHA:3071
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... ORPHA:79329
Bohring-Opitz Syndrome
Bilateral cleft palate, Neonatal respiratory distress, Ventricular septal defect, Intestinal malr... OMIM:605039
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Abnormality of the gallbladder... ORPHA:280
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, High palate, Ventricular septal defect ORPHA:505237
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Interrupted aortic arch OMIM:267000
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation OMIM:612918
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongu... ORPHA:464738
Hallermann-Streiff Syndrome
High, narrow palate, Respiratory insufficiency, Glossoptosis, Abdominal situs inversus, Tracheoma... ORPHA:2108
Trisomy 1Q
Anal atresia, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:261344
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:52
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:615879
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect OMIM:309520
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Ventricular septal ... OMIM:214100
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... ORPHA:542643
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Ventricular septal defect, Apnea, Stridor, High palate, Gastroesop... OMIM:614653
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Cle... OMIM:610443
Short Stature-Micrognathia Syndrome
High palate, Ventricular septal defect, Cleft palate, Gastroesophageal reflux OMIM:617164
Kleefstra Syndrome 1
Recurrent respiratory infections, Conotruncal defect OMIM:610253
Alg9-Cdg
Hepatomegaly, Villous atrophy, Ventricular septal defect, Pericardial effusion, Asthma, Abnormal ... ORPHA:79328
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Abnorma... OMIM:222470
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Cleft palate ORPHA:1770
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:610733
19P13.12 Microdeletion Syndrome
Atrial septal defect, Hepatic steatosis, Ventricular septal defect, Cleft palate ORPHA:254346
Radio-Tartaglia Syndrome
Ventricular septal defect, High, narrow palate, High palate, Gastroesophageal reflux, Dysphagia OMIM:619312
Pallister-Hall Syndrome
Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctatio... OMIM:146510
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Pyloric stenosi... ORPHA:261330
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl... OMIM:100300
Limb Body Wall Complex
Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the liver, Abn... ORPHA:2369
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... ORPHA:124
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect OMIM:610832
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Gastroeso... OMIM:300998
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Pulmonary hypopl... ORPHA:1692
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, High palate, Ventricular septal defect, Patent foramen ovale OMIM:270450
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Coarctation of ... OMIM:244450
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... OMIM:609942
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate OMIM:612530
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft palate, High pa... OMIM:130720
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect, Cleft palate OMIM:106260
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Joubert Syndrome 14
Intracranial hemorrhage, Ventricular septal defect, Cleft palate OMIM:614424
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... OMIM:619103
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... ORPHA:276280
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Ventricular septal defect, Increased pulmonary vascular resis... ORPHA:97214
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... OMIM:617063
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Cleft palate, Stroke-like episo... ORPHA:137675
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:251038
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Pyloric sten... ORPHA:2308
C Syndrome
Hepatomegaly, Patent ductus arteriosus, High palate, Ventricular septal defect OMIM:211750
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular volume, High palate... ORPHA:261250
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Intellectual Developmental Disorder, Autosomal Dominant 53
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Anter... OMIM:616894
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft palate, High pa... OMIM:610759
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Ventricular septal defect, Apnea, Tracheomalacia, Intestinal malrotation, Patent d... OMIM:300373
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect OMIM:617360
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Holoprosencephaly
Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve morphology, Abno... ORPHA:2162
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... OMIM:301030
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aort... ORPHA:138
Doors Syndrome
Thrombocytosis, Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic... OMIM:245150
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... OMIM:135500
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... OMIM:263520
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re... OMIM:618268
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Anal stenosis, Ventricular septal defect, Cleft soft palate, Paten... OMIM:117650
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Cleft palate, Glossoptosis, Tracheomala... ORPHA:1393
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Pulmonar... OMIM:618454
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Pyloric stenosis, Patent ductus arteriosus, Recurrent upper res... OMIM:602535
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper respiratory ... ORPHA:1465
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Vascular dilatation, Atrial sept... OMIM:607323
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft ... OMIM:614609
Distal Deletion 19P
Cleft palate, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation OMIM:222448
Combined Oxidative Phosphorylation Deficiency 15
Respiratory arrest, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Aortic val... OMIM:277600
Alagille Syndrome 1
Ventricular septal defect, Hepatocellular carcinoma, Cholestasis, Coarctation of aorta, Reduced n... OMIM:118450
Foix-Alajouanine Syndrome
Arteriovenous fistula, Venous malformation ORPHA:79093
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
X Small Rings
Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
16P13.11 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:261236
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Pyloric stenosis, Pneumothorax, Respiratory insufficie... OMIM:218040
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Recurrent low... OMIM:619229
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
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Focal Dermal Hypoplasia
Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Abnormal ca... ORPHA:2092
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Asthma, Abnormal heart morphology, Glossopto... ORPHA:444077
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia,... OMIM:274000
Leigh Syndrome
Ventricular septal defect, Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Neutrope... ORPHA:506
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, Gastroesophageal ... OMIM:613457
Ulnar-Mammary Syndrome
Pyloric stenosis, Ectopic anus, Ventricular septal defect, Anal atresia ORPHA:3138
Phelan-Mcdermid Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Gastroesophageal reflux OMIM:606232
Floating-Harbor Syndrome
Celiac disease, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left superior ... OMIM:136140
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, P... OMIM:122470
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent duc... OMIM:616682
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice,... OMIM:614866
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Lateral Meningocele Syndrome
High, narrow palate, High palate, Ventricular septal defect ORPHA:2789
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, High, narrow palate, Asthma, Respiratory insufficiency, Macroglossia, ... ORPHA:488632
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, P... OMIM:619575
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Atrial septal defe... OMIM:147791
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri... ORPHA:3474
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Codas Syndrome
Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... OMIM:600373
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
Trichothiodystrophy
Ventricular septal defect, High, narrow palate, Recurrent bronchopulmonary infections, Increased ... ORPHA:33364
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Splenomeg... OMIM:270400
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hi... OMIM:163950
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, High, narrow palate, Mitral valve pr... ORPHA:193
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Ascending aortic dissection, ... OMIM:608328
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... OMIM:227645
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, High palate, Atrial septal d... ORPHA:96121
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Respiratory insufficie... OMIM:139210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... ORPHA:438213
Larsen Syndrome
Ventricular septal defect, Tracheomalacia, Cleft palate, Atrial septal defect, Aortic aneurysm OMIM:150250
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Autoimmune th... OMIM:147920
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... OMIM:617107
Menkes Disease
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol... ORPHA:565
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation... ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Protruding tongue OMIM:212066
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Abnormality of the spleen, Patent ductus a... ORPHA:1606
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Ventricular septal defect, Cleft palate ORPHA:251028
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Submucous ... ORPHA:3047
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:2729
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Cleft palate OMIM:178110
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Neonatal respiratory ... OMIM:312870
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Trisomy 18
Ventricular septal defect, Esophageal atresia, Narrow palate, Cleft palate, Atrial septal defect,... ORPHA:3380
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Incre... OMIM:619525
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Patent ductus arteriosus, Abn... ORPHA:818
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Furrowed tongue, High palate, Gastroesophage... OMIM:616975
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Robinow Syndrome
Ventricular septal defect, Bifid tongue, Coarctation of aorta, Abnormal heart morphology, Ankylog... ORPHA:97360
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Gastroesophageal reflux, A... ORPHA:464306
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Cleft palate OMIM:272950
Penile Agenesis
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilatera... ORPHA:49
Rabson-Mendenhall Syndrome
Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High palate, Atrial sep... ORPHA:769
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cleft palate OMIM:257920
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, Bicuspid aortic valve, ... ORPHA:881
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Patent ductus arteriosus, Gastroesophageal reflux, Aortic valve stenos... ORPHA:464311
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect OMIM:609460
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus... OMIM:617140
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:251014
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... ORPHA:363958
Microphthalmia, Syndromic 3
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... OMIM:607721
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, High, narrow palate, Cleft... ORPHA:373
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Ebstein anomaly of the ... ORPHA:466791
Vater/Vacterl Association
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... OMIM:192350
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Tracheobronchomalacia, Tetralogy of Fallot, Bifi... OMIM:613458
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Velopharyngeal insuff... OMIM:154400
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... ORPHA:1724
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, Tricuspid valve p... ORPHA:261337
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Pyloric stenosis, Pulmo... OMIM:235730
Oculodentodigital Dysplasia
Ventricular septal defect, Cleft palate ORPHA:2710
Hajdu-Cheney Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Intestinal malrotation OMIM:102500
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, Cardiomegaly, High, narrow palate, Pyloric stenosis, Cardiomyopathy, G... ORPHA:3472
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag... OMIM:301044
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Respiratory insufficiency, Coarcta... OMIM:210710
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate ORPHA:1071
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Gastr... ORPHA:459070
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... OMIM:143095
Occipital Horn Syndrome
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Vascular dilatation ORPHA:198
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Pyloric stenos... ORPHA:268261
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, High pala... ORPHA:363700
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Williams-Beuren Syndrome
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retin... OMIM:194050
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... OMIM:615948
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Duodenal ulc... OMIM:135900
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... OMIM:236680
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Transposition of the great art... OMIM:256520
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... ORPHA:434179
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Microglossia, Abnormal lung lobation, Respir... ORPHA:672
Femoral-Facial Syndrome
Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Pulmonic stenosis, Truncus arte... OMIM:134780
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, Jaundice, Short uvula, Dil... OMIM:619475
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
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Gastr... OMIM:107480
Chromosome 13Q14 Deletion Syndrome
High palate, Ventricular septal defect, Patent foramen ovale OMIM:613884
Genitopatellar Syndrome
Anal stenosis, Ventricular septal defect, Malrotation of small bowel, Anteriorly placed anus, Pul... OMIM:606170
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Malrotation of small bowel, Biliary tract abnormalit... OMIM:194190
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Asthma, Recurrent pneumonia, High palate, Bifid uvula, Recurrent bronc... OMIM:620330
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate ORPHA:1934
Ulnar-Mammary Syndrome
Pyloric stenosis, Anal stenosis, Ventricular septal defect, Anal atresia OMIM:181450
Cornelia De Lange Syndrome
Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Cleft palate, High palate, G... ORPHA:199
Sotos Syndrome
Ventricular septal defect, Aganglionic megacolon, Small cell lung carcinoma, Patent ductus arteri... ORPHA:821
Microphthalmia With Limb Anomalies
Venous insufficiency ORPHA:1106
Proboscis Lateralis
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect OMIM:619522
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Patent ductus arteriosus, Biliary tract abnormal... OMIM:261540
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection ORPHA:285
Pallister-Killian Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft... OMIM:601803
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Biliary tract abnormality,... OMIM:268300
Yunis-Varon Syndrome
Ventricular septal defect, Pyloric stenosis, Cardiomyopathy, High palate, Aspiration pneumonia, P... OMIM:216340
Norrie Disease
Venous insufficiency ORPHA:649

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 Daw1

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 Daw1.

No publications found that use IMPC mice or data for Daw1.

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MGI Allele Allele Type Produced
Daw1em1(IMPC)Ccpcz Exon Deletion Mice
Daw1tm44713(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Daw1tm44713(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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