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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, 7
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... OMIM:611884
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... OMIM:618300
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... OMIM:615482
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615451
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... OMIM:615067
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615504
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Heterotaxy, Wheezing, Situs inversus totalis, Cough, Ciliary ... OMIM:613807
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615505
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... OMIM:614874
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615500
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:614017
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchiect... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... OMIM:614679
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 9
Cough, Situs inversus totalis, Chronic rhinitis, Recurrent sinusitis, Chronic sinusitis, Ciliary ... OMIM:612444
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615444
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... OMIM:618254
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... OMIM:606763
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:614935
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... OMIM:612650
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... OMIM:617577
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... OMIM:619607
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:608647
Hypoglossia With Situs Inversus
Respiratory distress, High palate, Situs inversus totalis, Upper airway obstruction, Microglossia... OMIM:612776
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Wheezing, Situs inversus totalis, Cough, Chronic sinusitis, Recurrent pneumon... OMIM:613808
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Ciliary Dyskinesia, Primary, 38
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... OMIM:618063
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... OMIM:619608
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... ORPHA:244
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Ciliary Dyskinesia, Primary, 35
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent res... OMIM:617092
Mirror Movements 3
Situs inversus totalis OMIM:616059
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... OMIM:615382
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Gastroesophageal reflux, Atrial septal defect, Stroke, Ventricular septal d... OMIM:249270
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia, Restrictive ventila... OMIM:613686
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
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... ORPHA:1666
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... OMIM:208540
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Polysple... OMIM:306955
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinus... OMIM:244400
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... OMIM:609008
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Hepatomegaly, Atrial septal defect, Gastroesophageal reflux OMIM:619881
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... ORPHA:3426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... OMIM:615294
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:616145
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Respiratory insufficiency, Dextrocardia, Duodenal stenosis,... ORPHA:1759
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent... OMIM:106700
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Cleft palate, Tracheomalacia, Situs inversus... OMIM:202650
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... OMIM:617091
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Tachypnea, Pneumothorax, Dextrocardia... ORPHA:2257
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Spinal Muscular Atrophy, Type I
Atrial septal defect, Respiratory insufficiency, Ventricular septal defect, Respiratory failure, ... OMIM:253300
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypopl... OMIM:617022
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Ciliary Dyskinesia, Primary, 6
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Abnormal ciliary motility, Recurrent respirat... OMIM:610852
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia, Respiratory insufficiency, Respiratory failure OMIM:602088
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Gastroesophageal reflux, Coarc... OMIM:600987
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... OMIM:614034
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia ORPHA:89844
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Situs inv... ORPHA:1908
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Immoti... OMIM:242680
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Respiratory distress ORPHA:990
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Dextrocardia, Anal atresia, Patent ductus arteriosus ORPHA:2863
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Dextrocardia, Jaundice OMIM:613095
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... ORPHA:99125
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular s... OMIM:617877
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Mungan Syndrome
Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstructio... OMIM:611376
Stormorken Syndrome
Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies OMIM:185070
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Elevated pulmonary artery pressure, Abnormal... ORPHA:99094
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... OMIM:314390
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cholestasis, Patent ductus arteriosus, Protein-losing enteropathy, Anemia, Thromboc... OMIM:608104
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Splenogonadal fusion, Biliary tract abn... OMIM:156810
Mosaic Trisomy 9
Atrial septal defect, Abnormal liver lobulation, Endocardial fibroelastosis, Ventricular septal d... ORPHA:99776
Joubert Syndrome
Apnea, Episodic tachypnea, Situs inversus totalis, Abnormal pattern of respiration, Aganglionic m... ORPHA:475
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... OMIM:618699
Sandestig-Stefanova Syndrome
High palate, Respiratory failure, Perimembranous ventricular septal defect, Muscular ventricular ... OMIM:618804
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... OMIM:242670
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... ORPHA:2326
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Asthma, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pyloric stenosis OMIM:614262
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... ORPHA:95430
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonary artery stenosis, ... OMIM:600001
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Accessory spleen, Hepatopulmonary... OMIM:618280
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus OMIM:147770
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... ORPHA:363444
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Recurrent respiratory infections ORPHA:1882
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Jaundice, Glossoptosis OMIM:614876
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... OMIM:601612
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... ORPHA:289
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness OMIM:616816
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Pagod Syndrome
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Pulmonary artery hypop... ORPHA:991
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Respiratory insufficiency, Tetralogy of Fallot, Ventricular septal defect, Abnormal... ORPHA:1166
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Respiratory insufficiency, Thrombocytopenia, Ventricular septal defect, Patent ductus arteriosus,... OMIM:617021
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy ORPHA:3242
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... OMIM:192430
Poland Syndrome
Dextrocardia OMIM:173800
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertro... ORPHA:101028
Indomethacin Embryofetopathy
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Cardiomyopathy ORPHA:1909
Short Rib-Polydactyly Syndrome
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Tr... ORPHA:1505
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... ORPHA:1667
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Chromosome 9P Deletion Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Ventricular septal defect,... OMIM:158170
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... OMIM:614886
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Patent ductus arteriosus, Polysplenia, Asplenia OMIM:164280
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Respiratory insufficiency, Respiratory failure, Truncus arteriosus OMIM:228940
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Sleep apnea, Atrial septal defect, Hiatus hernia, Gastroesophageal reflux, Persistence of hemoglo... OMIM:619769
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal d... OMIM:264480
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Pulmonary veno... ORPHA:3092
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia, Ventricular septal defect, D... OMIM:614294
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Glossoptosis ORPHA:1388
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Tracheomalacia, Persistenc... OMIM:612561
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect, Histiocytoid cardiom... OMIM:309801
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... OMIM:612946
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Marden-Walker Syndrome
Cleft palate, Abnormal anatomic location of the heart, Bifid uvula, Ventricular septal defect, De... ORPHA:2461
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Malabsorption, Anal atresia, Exocrine pancreatic insufficienc... ORPHA:2315
Halperin-Birk Syndrome
High palate, Pseudobulbar paralysis, Gastroesophageal reflux, Aspiration, Perimembranous ventricu... OMIM:618651
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Intracranial hemorrhage, Leukopenia, ... OMIM:617053
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Situs inversus totalis, Cysti... ORPHA:564
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Splenomegaly, Accessory spleen, Coarctation of aorta, Malform... OMIM:249000
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate ORPHA:2515
Marden-Walker Syndrome
High palate, High, narrow palate, Cleft palate, Pyloric stenosis, Dextrocardia, Pulmonary hypopla... OMIM:248700
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Portal hypertension,... OMIM:616589
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... OMIM:269200
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Abnormal aortic valve morphology, Py... ORPHA:261197
Apert Syndrome
Ectopic anus, Narrow palate, Cleft palate, Bifid uvula, Ventricular septal defect, Pyloric stenos... OMIM:101200
Congenital Tracheal Stenosis
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Tracheoesop... ORPHA:141127
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Diets-Jongmans Syndrome
Ventricular septal defect, Duodenal atresia, Interrupted inferior vena cava with azygous continua... OMIM:618846
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, High palate ORPHA:261120
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular septal defect, Abnormal ao... ORPHA:2516
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Leukopenia, Pulmonary artery atre... OMIM:301056
Colonic Atresia
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... ORPHA:1198
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Cholestasis, Ventricular septal defect, Cor triatria... OMIM:619534
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Apnea, Hypertrophic cardiomyopathy, Respiratory failure OMIM:616277
Xk Aprosencephaly Syndrome
Ventricular septal defect, Anal atresia, Atrial septal defect ORPHA:3469
Alg3-Cdg
Decreased liver function, Coarctation of the descending aortic arch, Pulmonary hypoplasia, Cardio... ORPHA:79321
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Pulmonary artery atresia, Ventricular septal defect... ORPHA:401935
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Abnormal lung morphology, Venous insuffic... ORPHA:33276
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Joubert Syndrome With Ocular Defect
Apnea, Cleft palate, Dextrocardia, Abnormal pattern of respiration, Aganglionic megacolon ORPHA:220493
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Thrombocytop... OMIM:618624
Proteus Syndrome
Lymphangioma, Venous malformation, Splenomegaly OMIM:176920
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus OMIM:601355
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Gastroesophageal reflux, Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic... OMIM:301040
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Transaldolase Deficiency
Asthma, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepa... OMIM:606003
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Recurrent viral upper respiratory ... OMIM:616898
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Asplenia OMIM:240300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Ectopic anus, Hypoplastic left heart, Cleft palate ORPHA:2476
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology ORPHA:96092
Ogden Syndrome
High palate, Apnea, Ventricular septal defect, Pulmonary hypoplasia, Jaundice, Cardiomegaly, Peri... OMIM:300855
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Methimazole Embryofetopathy
Tracheoesophageal fistula, Coarctation of aorta, Ventricular septal defect, Esophageal atresia, A... ORPHA:1923
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Partial di... ORPHA:2847
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Patent ductus arteri... ORPHA:290
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... ORPHA:2255
Rubinstein-Taybi Syndrome 1
Respiratory distress, High palate, Cleft palate, Ventricular septal defect, Leukemia, High, narro... OMIM:180849
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Atrial septal defect, Hypoxemia, C... OMIM:610978
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Respiratory insufficiency, ... ORPHA:90308
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... OMIM:130090
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Kawasaki Disease
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:2331
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... OMIM:610205
Czeizel-Losonci Syndrome
High palate, Dextrocardia, Tracheoesophageal fistula, Pulmonary hypoplasia ORPHA:2437
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal defect, Abnormality of the p... ORPHA:1926
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:619189
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Le... OMIM:243150
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis OMIM:618021
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Myeloprolifer... OMIM:190685
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy o... ORPHA:163956
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... ORPHA:363705
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Coarctat... ORPHA:508498
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Ectopic anus, Cleft palate ORPHA:94066
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
Renpenning Syndrome 1
High palate, Anal atresia, Atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular s... OMIM:309500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Stroke, Ventricular septal defect, Thrombocytopenia ORPHA:49827
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Prune Belly Syndrome
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Tetralogy of Fall... ORPHA:2970
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Pulmona... ORPHA:2059
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus,... OMIM:618223
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Apnea, Anemia, Hypertrophic cardiomyopathy ORPHA:255241
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Knobloch Syndrome
Pyloric stenosis, Dextrocardia, Lymphangioma, Patent ductus arteriosus ORPHA:1571
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, T... ORPHA:904
Charge Syndrome
Double outlet right ventricle, Anal atresia, Duodenal atresia, Secundum atrial septal defect, Atr... OMIM:214800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Cholelithiasis, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, B lym... ORPHA:83617
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Johanson-Blizzard Syndrome
Anal atresia, Malabsorption, Exocrine pancreatic insufficiency, Atrial septal defect, Cholestasis... OMIM:243800
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral valve prolapse, Hepatic cysts OMIM:173900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis OMIM:313850
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Cat Eye Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... OMIM:115470
Keutel Syndrome
Ventricular septal defect, Recurrent sinusitis, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Gastroesophageal reflux ORPHA:228399
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction cardiomyopathy... OMIM:616651
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
20Q13.33 Microdeletion Syndrome
Hypoplastic aortic arch, Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of... ORPHA:261311
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... ORPHA:91387
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Distal Tetrasomy 15Q
Atrial septal defect, Pulmonary hypoplasia, Patent ductus arteriosus, Hypoplastic aortic arch, Ab... ORPHA:314588
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Splenomegaly, Anemia, ... ORPHA:699
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Atrial septal defect, Anemia, Varicose veins, Pericardial ... OMIM:617300
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Gastroesophageal reflux, Respiratory insufficiency, Ventricular se... OMIM:619909
Digeorge Syndrome
Cholelithiasis, Splenomegaly, Hypoplasia of the thymus, Tetralogy of Fallot, Thrombocytopenia, Ve... OMIM:188400
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Varicose veins, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Esophageal Atresia
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric... ORPHA:1199
Tyshchenko Syndrome
High palate, Sleep apnea, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate,... OMIM:615102
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Calcification of the aor... OMIM:231005
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Right atrial enlargement, Pulmonary edema, Myofiber disarray, Stroke, Muscu... OMIM:115197
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... OMIM:619656
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Atrial septal defect, Gastroesophageal reflux, Atrioventricular canal defect, Tetra... OMIM:600123
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Hyperventilation, Normochromic anemi... OMIM:618775
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Monosomy 18Q
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... ORPHA:1600
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial sept... OMIM:608406
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aganglionic megacolon OMIM:613870
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate OMIM:314320
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... ORPHA:7
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... OMIM:615550
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate ORPHA:3369
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Tracheobronchomalacia, Patent ductus arteriosus... ORPHA:500159
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Ventricular septal defect, Patent ductus arteri... ORPHA:452
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Atrial septal defect, Intestinal malrotation, Coarctation of aorta, Ve... OMIM:617602
Emanuel Syndrome
High palate, Anal atresia, Aortic valve stenosis, Atrial septal defect, Cleft palate, Gastroesoph... OMIM:609029
Fanconi Anemia, Complementation Group B
Duodenal atresia, Tracheoesophageal fistula, Aplastic anemia, Coarctation of aorta, Abnormal lung... OMIM:300514
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Thymic Carcinoma
Abnormal vena cava morphology, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:99868
Pseudoaminopterin Syndrome
Patent foramen ovale, Asplenia ORPHA:221120
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Malrotation of small bowel, Pulmonary hypoplasia ORPHA:139466
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Hypoplastic left heart, Abnormal aortic morphology ORPHA:2001
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure OMIM:607598
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Lymphangioma, Venous insufficiency ORPHA:137608
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Anal atresia, Ectopic anus, Cleft palate ORPHA:2345
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Cor... OMIM:617168
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Tetral... ORPHA:251071
Kagami-Ogata Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus, Pyloric stenosis OMIM:218350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent duc... OMIM:618142
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Inflammation of the large intestine,... OMIM:614576
Carpenter Syndrome 2
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Situs inversus totalis, De... OMIM:614976
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Arteria lusoria, Mitral valve prola... OMIM:212093
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Microphthalmia, Syndromic 2
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ve... OMIM:300166
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Furrow... OMIM:248950
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Tracheobronchomalacia, Patent ductus arteriosus... OMIM:617751
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Gastroesophageal reflux, High, narrow palate, Tra... OMIM:616368
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Tetralogy of Fallot, Ventricular septal de... ORPHA:1335
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Ventri... OMIM:619343
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal pulmonary valve morphology, Cholelithiasis, Atrial septal defect, Spl... ORPHA:567
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Leukemia OMIM:602501
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Dextrocardia, Aortic aneurysm, A... ORPHA:536545
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... ORPHA:488618
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
De Barsy Syndrome
Prominent veins on trunk, Recurrent sinopulmonary infections, Ventricular septal defect, Patent d... ORPHA:2962
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, High palate, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cervical lymp... OMIM:602782
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Intestinal malrotation, Ventricular ... ORPHA:457193
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia OMIM:612528
Emanuel Syndrome
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Atrial septal defect, Cleft palat... ORPHA:96170
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Protruding tongue, Atrial septal defect OMIM:300963
Cooper-Jabs Syndrome
Ventricular septal defect, Respiratory insufficiency, Anteriorly placed anus ORPHA:1488
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Bifid uvula, C... OMIM:614921
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Respiratory failure, Respiratory distress OMIM:617895
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate OMIM:619995
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Coarctation of aor... OMIM:617506
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatoblastoma, Gastritis, Peripheral pulmo... ORPHA:84064
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Aortic valve stenosis, Pulmonic steno... ORPHA:261537
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve pr... OMIM:175050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Atrial septal defect, Episodic tachypnea, Hepatomegaly, Tachypnea, Ventricu... ORPHA:26793
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Lymphedema-Distichiasis Syndrome
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose ... OMIM:153400
Noonan Syndrome 10
Mitral stenosis, High palate, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrop... OMIM:616564
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Hypoplastic left heart, Ventricular septal defect, Patent ductus a... OMIM:301043
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Asplenia, Peripheral pulmonary vessel aplasia OMIM:273395
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, High palate, Cleft palate OMIM:609654
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Cleft palate, ... ORPHA:3310
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... OMIM:612541
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Cleft palate, Right ventricular hypertrophy, Ventricular septal defect, Pat... OMIM:614261
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Cleft palate ORPHA:398156
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... OMIM:612562
Braddock-Carey Syndrome 1
Cleft palate, Ventricular septal defect, Anteriorly placed anus, Aortic valve prolapse, Thrombocy... OMIM:619980
Seckel Syndrome 9
Asthma, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Recurrent r... OMIM:616777
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Aortic valve stenosis, Pulmonic steno... ORPHA:261552
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, High palate, Tetralogy of Fallot ORPHA:3306
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary interstitial morphology, Mac... ORPHA:227990
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Aortic valve stenosis, Pulmonic stenos... ORPHA:2152
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:2519
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Tetralogy of Fallot ORPHA:2328
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Cholestasis, Ventricular septal defect, Hepatic fibrosis OMIM:615630
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Abnormality of mesentery morphology ORPHA:2256
Woods Syndrome
Ventricular septal defect OMIM:615236
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... ORPHA:391641
Hardikar Syndrome
Hepatomegaly, Cholestasis, Ventricular septal defect, Esophageal varix, Prolonged neonatal jaundi... OMIM:301068
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Short Stature-Micrognathia Syndrome
Ventricular septal defect, High palate, Cleft palate, Obstructive sleep apnea OMIM:617164
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Coarctation of aorta, Elevated hepatic transaminase, Interrupted aortic arch, Paten... ORPHA:17
Mosaic Trisomy 16
Atrial septal defect, Single coronary artery origin, Abnormality of the gastrointestinal tract, C... ORPHA:1708
Pelger-Huet Anomaly
Median cleft palate, Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormalit... OMIM:169400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Right aortic arch ORPHA:513456
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect ORPHA:75389
Ring Chromosome 7 Syndrome
Situs inversus totalis, Median cleft palate, Bifid uvula, Cleft palate ORPHA:1449
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Patent ductus arteriosus, In... OMIM:300712
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage ORPHA:624
Filippi Syndrome
Ventricular septal defect OMIM:272440
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... ORPHA:2396
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Ventricular septal de... ORPHA:435638
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect, ... ORPHA:329224
Holoprosencephaly 14
Ventricular septal defect, Aortic valve atresia, Double outlet right ventricle OMIM:619895
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Bifid uvula, Tetralogy of Fallot, Coarctation of aorta, Ventricular septal ... OMIM:617159
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Pulmonary lymphangiectasia, Ventricular se... OMIM:235255
Erythrocytosis, Familial, 2
Stroke, Increased hematocrit, Cerebral hemorrhage, Increased red blood cell mass, Increased hemog... OMIM:263400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neo... ORPHA:97289
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Gm1 Gangliosidosis
Gastroesophageal reflux, Macroglossia, Cherry red spot of the macula, Aspiration pneumonia, Splen... ORPHA:354
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Intracranial hemorrhage, Thrombocytopenia, Ventricular septal defect, Absen... ORPHA:163979
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Hepatic cysts OMIM:263630
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618870
Mosaic Variegated Aneuploidy Syndrome 2
Sleep apnea, Duodenal atresia, Atrial septal defect, Coarctation of aorta, Abnormal lung lobation... OMIM:614114
Autoimmune Polyendocrinopathy Type 3