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:
4933429D11Rik,  4930563E19Rik,  Wdr69,  b2b1116Clo,  b2b1584Clo

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
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurr... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615067
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Ectopia of the spleen, Ri... OMIM:613751
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... OMIM:616037
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... OMIM:613807
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respir... OMIM:615505
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615500
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... OMIM:612444
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent out... OMIM:614017
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... OMIM:300991
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... OMIM:614679
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Right Atrial Isomerism
Abdominal situs ambiguus, Right atrial isomerism, Single ventricle, Situs inversus totalis, Aorto... OMIM:208530
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dy... OMIM:613193
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis, Abnormal resp... OMIM:612518
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:614935
Ciliary Dyskinesia, Primary, 40
Cough, Situs inversus totalis, Rhinitis, Abnormal heart morphology OMIM:618300
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Pulmonic... OMIM:615415
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... OMIM:618254
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal po... OMIM:613808
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Hypoglossia With Situs Inversus
Situs inversus totalis, Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia, Mi... OMIM:612776
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Dextrocardia, ... OMIM:618063
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusit... OMIM:617092
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double... ORPHA:244
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosi... OMIM:615382
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Pneumonia, Sinusitis... OMIM:244400
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Restrictive ventilatory defect, Situs inver... 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
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Intestinal malro... ORPHA:3426
Agnathia-Otocephaly Complex
Situs inversus totalis, Respiratory distress, Aglossia, Laryngeal hypoplasia, Tracheomalacia, Hyp... OMIM:202650
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Persistent left superior vena ca... OMIM:609008
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Absent gallbladder, Ventricular septal defect, Pat... ORPHA:210122
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Patent ductus arte... OMIM:208540
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior... ORPHA:185
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Respiratory failure, ... OMIM:253300
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Sinusitis,... OMIM:615504
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Respiratory insufficiency, Hepatomeg... ORPHA:1759
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glossoptosis, Overri... OMIM:616145
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts OMIM:613095
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... OMIM:608647
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Recurrent r... OMIM:618801
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Abno... ORPHA:2257
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... OMIM:601927
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... OMIM:242680
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Situs inversus totalis, Respiratory insufficiency OMIM:602088
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Prominent nose OMIM:221950
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Lethal Congenital Contracture Syndrome 10
Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiom... OMIM:617022
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Respiratory distress, Dysphagia, Wide nasal bridge, Patent foramen ovale, H... ORPHA:89844
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Wide nasal bridge, Cleft palate, Pulmonary art... ORPHA:1908
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... OMIM:619123
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Microglossia, Situs inversus totalis, Respiratory distress ORPHA:990
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Obstructive sleep apnea, Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect,... OMIM:617877
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia, High palate ORPHA:2863
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Cardiomegaly OMIM:619170
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmonic stenosis, Perimembranous v... OMIM:611376
Retinitis Pigmentosa 6
Recurrent respiratory infections, Immotile cilia OMIM:312612
Cardiac-Urogenital Syndrome
Scimitar anomaly, Accessory spleen, Atrial septal defect, Ventricular septal defect, Dysplastic t... OMIM:618280
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Left superior vena cava draining directly to the left atrium, Ventricular septal defect, Portal i... OMIM:613759
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Absent respiratory ciliary axoneme radial spokes, Ciliary... OMIM:242670
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect... OMIM:215520
Joubert Syndrome
Apnea, Situs inversus totalis, Anteverted nares, Episodic tachypnea, Aganglionic megacolon, Abnor... ORPHA:475
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Sandestig-Stefanova Syndrome
Wide nasal bridge, Perimembranous ventricular septal defect, Muscular ventricular septal defect, ... OMIM:618804
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... OMIM:314390
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Mosaic Trisomy 9
Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Biliary tract abnormality, Asplenia, Splenogonadal fusion, Absent ... OMIM:156810
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Alveolar capillary dysplasia, Pulm... OMIM:265380
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... ORPHA:1110
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Perimembranous ventric... ORPHA:363444
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Abnorm... OMIM:601612
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Asthma, Pyloric stenosis OMIM:614262
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia OMIM:614294
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect OMIM:616277
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... OMIM:614886
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Recurrent respiratory infections ORPHA:1882
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Glossoptosis, Ventricular septal defect OMIM:614876
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Abnormality... ORPHA:1727
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl... ORPHA:991
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Situs inversus totalis, Abnormal heart morphology, Hepatic cysts, Abnor... ORPHA:1505
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... OMIM:192430
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Ventricular septal defect, Choanal atresia, Esophage... OMIM:101200
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Respiratory insufficiency, Cleft palate, A... ORPHA:1166
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Fetal Minoxidil Syndrome
Depressed nasal bridge, Ventricular septal defect ORPHA:1918
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... OMIM:614300
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Renpenning Syndrome
Anal atresia, Heterotaxy, Cleft palate, High, narrow palate, Prominent nose ORPHA:3242
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Poland Syndrome
Dextrocardia OMIM:173800
Stormorken Syndrome
Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies, Prominent nose OMIM:185070
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Thrombocytopenia,... OMIM:617021
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation... ORPHA:101028
Meckel Syndrome, Type 1
Accessory spleen, Abnormality of the larynx, Malformation of the hepatic ductal plate, Patent duc... OMIM:249000
Feingold Syndrome 1
Accessory spleen, Polysplenia, Patent ductus arteriosus, Wide nasal bridge, Asplenia, Anteverted ... OMIM:164280
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Indomethacin Embryofetopathy
Respiratory insufficiency, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
14Q11.2 Microdeletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, High palate, Depressed nasal bridge ORPHA:261120
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Macroglossia, Short nose, Ventricular septal defect, Gastroesophag... OMIM:301040
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Underdeveloped nasal alae, Short nose, Dextrocardia, Abnormali... ORPHA:2315
Congenital Tracheal Stenosis
Wheezing, Morphological abnormality of the gastrointestinal tract, Anomalous origin of left pulmo... ORPHA:141127
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Truncus arteriosus, Respiratory insufficiency, Ventricular septal defect OMIM:228940
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Elevated hepatic transaminase, Exocr... ORPHA:1667
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, High palate, Depressed nasal b... OMIM:618929
Xk Aprosencephaly Syndrome
Anal atresia, Atrial septal defect, Abnormality of the pharynx, Ventricular septal defect ORPHA:3469
Catel-Manzke Syndrome
Cleft palate, Atrial septal defect, Glossoptosis, Ventricular septal defect ORPHA:1388
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect OMIM:601355
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... OMIM:610978
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Anal atresia, Overriding aorta, Anteriorly place... OMIM:309801
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Abnormal anatomic location of the heart, Dextr... ORPHA:2461
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Wide nasal bridge, Double outlet right vent... ORPHA:2209
Coffin-Siris Syndrome 10
Anteverted nares, Laryngomalacia, Ventricular septal defect OMIM:618506
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Patent ductus arteriosus, Cardiomegaly, Patent ... OMIM:601005
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Marden-Walker Syndrome
Zollinger-Ellison syndrome, Dextrocardia, Pulmonary hypoplasia, Cleft palate, High palate, High, ... OMIM:248700
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Coarctation o... OMIM:606003
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Pancreatic cysts, Pancreatic fibrosis, Cystic liver dis... ORPHA:564
Joubert Syndrome With Ocular Defect
Apnea, Anteverted nares, Aganglionic megacolon, Dextrocardia, Cleft palate, Abnormal pattern of r... ORPHA:220493
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Wide nasal bridge, Dextrocardia... ORPHA:96092
Sweeney-Cox Syndrome
Asplenia, Choanal atresia, Underdeveloped nasal alae, Wide nasal bridge OMIM:617746
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Pseudobulbar paralysis, Gastroesophageal reflux, Perimembranous ventricular septal defect, High p... OMIM:618651
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... ORPHA:1923
Distal Trisomy 5Q
Short nose, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Promi... ORPHA:96097
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Aortic dissection, Prominent nasal bridge, Aortic aneur... OMIM:130090
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Productiv... OMIM:618699
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Gastroesophageal reflux, Abnormal aortic valve m... ORPHA:261197
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Aortic root aneurysm OMIM:618496
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Duodenal atr... OMIM:618846
Mirage Syndrome
Lymphopenia, Gastroesophageal reflux, Patent ductus arteriosus, Achalasia, Esophageal stricture, ... OMIM:617053
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Wide... ORPHA:2184
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Giant Cell Arteritis
Recurrent pharyngitis, Pericarditis, Abnormal pleura morphology, Double outlet right ventricle wi... ORPHA:397
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Thromb... OMIM:301056
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... ORPHA:1913
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... ORPHA:85202
Kaposi Sarcoma
Abnormal lung morphology, Generalized lymphadenopathy, Venous insufficiency, Abnormality of the s... ORPHA:33276
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Depressed nasal bridge, Ventricular septal defect OMIM:616901
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Respiratory insufficiency, Pulmonic ... ORPHA:1461
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morp... ORPHA:284169
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thrombocytopenia, Jaun... ORPHA:290
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect OMIM:300887
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Cholestasis, Pulmonic stenosis, Chole... OMIM:610205
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Depressed nasal bridge, Abnormal nasal morphology, Ventricula... ORPHA:83473
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... ORPHA:2255
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Narrow naris, Narrow palate, Patent ductus arterios... OMIM:614976
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Renpenning Syndrome 1
Atrial septal defect, Situs inversus totalis, Bulbous nose, Ventricular septal defect, Wide nasal... OMIM:309500
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Patent ductus arterios... OMIM:613870
Klippel-Trénaunay Syndrome
Atrial septal defect, Gastrointestinal hemorrhage, Microcytic anemia, Abnormal tricuspid valve mo... ORPHA:90308
Chromosome 16P13.3 Duplication Syndrome
Short nose, Atrial septal defect, Bulbous nose, Ventricular septal defect OMIM:613458
Noonan Syndrome 12
Ventricular septal defect, Lymphopenia, Thrombocytopenia, Tetralogy of Fallot, Anteriorly placed ... OMIM:618624
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Ventricular septal defect OMIM:616816
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... ORPHA:2847
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Bicuspid aortic... ORPHA:402075
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... OMIM:618223
Czeizel-Losonci Syndrome
Dextrocardia, High palate, Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:2437
Roifman Syndrome
Recurrent pneumonia, Noncompaction cardiomyopathy, Underdeveloped nasal alae, Ventricular septal ... OMIM:616651
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Esophageal varix, Hepatic fibrosis, Portal hyperte... OMIM:616589
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... OMIM:608406
Proteus Syndrome
Lymphangioma, Venous malformation, Depressed nasal bridge, Splenomegaly OMIM:176920
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Exocrine pancreatic insufficiency, Ventricular septal defect, Coarctation of ... ORPHA:508498
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Prominent nasal bridge... OMIM:618974
Knobloch Syndrome
Patent ductus arteriosus, Dextrocardia, Lymphangioma, Pyloric stenosis, Depressed nasal bridge ORPHA:1571
X-Linked Intellectual Disability, Nascimento Type
Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmon... ORPHA:163956
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Wide nasal bridge, Ventricular septal defect ORPHA:228399
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancreas, Abnormality o... ORPHA:1926
Kawasaki Disease
Recurrent pharyngitis, Pericarditis, Abnormal heart valve morphology, Leukocytosis, Abnormal pulm... ORPHA:2331
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Wide nasal bridge, Abnormal cardiac ... ORPHA:2059
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Neutropenia, Cor triatriatum, Respiratory insufficiency, Leukopenia, An... OMIM:612541
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Respiratory distress, Underdeveloped nasal alae, Cholelithiasis, Biliar... ORPHA:83617
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Ventricular septal defect OMIM:272440
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:619189
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Atrial septal defect, Ventricular septal defect OMIM:616898
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis, Ventricular septal defect OMIM:618021
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Cholestasis, Ventricular septal defect ORPHA:1296
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Cleft palate, Ventricular septal defect ORPHA:94066
Leigh Syndrome With Leukodystrophy
Apnea, Ventricular septal defect, Anemia, Hypertrophic cardiomyopathy ORPHA:255241
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Gastroesophageal reflux, C... OMIM:600987
Johanson-Blizzard Syndrome
Atrial septal defect, Situs inversus totalis, Exocrine pancreatic insufficiency, Underdeveloped n... OMIM:243800
Prune Belly Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation... ORPHA:2970
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Choanal atresia, ... ORPHA:1199
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Tetralogy of Fallot ORPHA:93315
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Gastroesophageal reflux, Wide nasal bridge, Anal... OMIM:600123
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia, Bicuspid aortic valve, Dilated cardiomyopathy,... OMIM:613426
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Hardikar Syndrome
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Intestinal malrotation... OMIM:612726
Progeroid Facial Appearance With Hand Anomalies
Prominent superficial veins, Tetralogy of Fallot, Prominent nose OMIM:602249
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Absent gallbladder, Tetralogy of Fallot, Overriding aorta ORPHA:3186
Trigonocephaly With Short Stature And Developmental Delay
High palate, Wide nasal bridge, Ventricular septal defect OMIM:314320
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic root aneurysm, Bicuspid aortic valve, Abdominal aortic an... OMIM:617168
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, Anteverted nares, Depresse... OMIM:616920
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Bulbous nose, Hypoplastic aortic arch, Abnormal cardiac ventricle morpholog... ORPHA:261311
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
3C Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal mitral valve morphology, Ab... ORPHA:7
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Intestinal malrotation, Anal atresia... OMIM:617602
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Distal Monosomy 15Q
Broad nasal tip, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Burn-Mckeown Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Choanal atresia, Bila... OMIM:608572
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Wide nasal bridge, Ventricular septal defect ORPHA:3369
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Ventricular septal defect, Intest... OMIM:243150
Lymphatic Malformation 7
Atrial septal defect, Respiratory distress, Pericardial effusion, Pulmonary edema, Anemia, Varico... OMIM:617300
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arteriosus, Pulm... OMIM:615355
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphat... ORPHA:568051
Williams Syndrome
Abnormal carotid artery morphology, Abnormal endocardium morphology, Peripheral pulmonary artery ... ORPHA:904
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Hepato... OMIM:608149
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Hepatomegaly, Pancytopenia, Cardiomegaly,... OMIM:231005
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, High palate, Depressed... OMIM:618142
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Tyshchenko Syndrome
Atrial septal defect, Sleep apnea, Narrow palate, Ventricular septal defect, Pulmonic stenosis, C... OMIM:615102
Pearson Syndrome
Median cleft lip and palate, Exocrine pancreatic insufficiency, Abnormal heart morphology, Reticu... ORPHA:699
Distal Tetrasomy 15Q
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Hypoplastic aortic arc... ORPHA:314588
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hyperventilation, Thrombocytopen... OMIM:618775
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Secundum ... ORPHA:1600
Mcdonough Syndrome
Atrial septal defect, Ventricular septal defect, Furrowed tongue, Pulmonic stenosis, Aortic valve... OMIM:248950
Oculoauriculofrontonasal Syndrome
Cleft palate, Wide nose, Underdeveloped nasal alae, Ventricular septal defect ORPHA:398156
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:500159
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Gastroesophageal reflux, Patent ductus arteriosu... ORPHA:457193
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Depressed nasal bridge, Ventricular septal defect OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Atrial septal defect, Ventricular septal defect ORPHA:49827
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... OMIM:615550
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Gastroesophageal reflux, Pat... OMIM:609029
Chromosome 14Q11-Q22 Deletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, High palat... OMIM:613457
Aphalangy With Hemivertebrae
Pulmonary hypoplasia, Ventricular septal defect OMIM:207620
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Malrotation of small bowel, Ventricular septal defect ORPHA:139466
Thymic Carcinoma
Mediastinal lymphadenopathy, Abnormal vena cava morphology, Neoplasm of the thymus ORPHA:99868
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormality of mesentery morphology, Depressed nasal bridge, Wide nasal bridge, Ventricular septa... ORPHA:2256
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
22Q11.2 Deletion Syndrome
Bulbous nose, Patent ductus arteriosus, Choanal atresia, Abnormality of the tonsils, Truncus arte... ORPHA:567
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Choanal atresia, Patent ductus arteriosus, Retic... OMIM:613309
Cooper-Jabs Syndrome
Anteriorly placed anus, Anteverted nares, Respiratory insufficiency, Ventricular septal defect ORPHA:1488
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Right ventricular hypertrophy, Cleft... OMIM:614261
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Esophageal atresia, Thrombocytopenia, Duoden... OMIM:300514
Pseudoaminopterin Syndrome
Patent foramen ovale, Asplenia, Prominent nasal bridge ORPHA:221120
Isolated Klippel-Feil Syndrome
Cleft palate, Anal atresia, Ectopic anus, Ventricular septal defect ORPHA:2345
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure, Ventricular septal defect OMIM:607598
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Ventricular septal defect, Aganglionic megacolon, Patent ductu... ORPHA:452
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency ORPHA:745
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... OMIM:300712
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the nose, Double outlet right ven... OMIM:301043
Histiocytosis-Lymphadenopathy Plus Syndrome
Varicose veins, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepato... OMIM:602782
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Ring Chromosome 7 Syndrome
Narrow naris, Situs inversus totalis, Short nose, Anteverted nares, Wide nasal bridge, Median cle... ORPHA:1449
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Hypoplastic left heart ORPHA:2001
Frank-Ter Haar Syndrome
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Broad nasal tip, ... OMIM:249420
Tetraamelia Syndrome 1
Choanal atresia, Asplenia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Single naris OMIM:273395
Woods Syndrome
Wide nasal bridge, Ventricular septal defect OMIM:615236
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Venous insufficiency, Arteriovenous malformation ORPHA:137608
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Bulbous nose, Transposition of the great arteries, Depressed nasal bridge OMIM:616789
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Tracheomalacia, Right aortic arch, Anteverted nares, Depressed nasal b... ORPHA:513456
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia, Respiratory failure, Depre... OMIM:617895
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Ventricular septal defect OMIM:214300
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium morphology, Pu... ORPHA:1335
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Ventricular septal defect, Reticulocytopenia, Leukopenia, Macrocytic anemia OMIM:612528
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arc... OMIM:300166
Kapur-Toriello Syndrome
Bulbous nose, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Tetral... ORPHA:2328
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Aortic root aneur... ORPHA:231160
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery athero... ORPHA:435638
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nar... ORPHA:40366
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Anteverted nares, Ventricular septal defect OMIM:263630
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Arteria lusoria, Mitral stenosis, Tricuspid valve prolapse, Patent foramen ova... OMIM:212093
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Atrial septal defect, Ventricular septal defect, ... OMIM:614576
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Atrial septal defect, Short nose, Ventricular septal defect, Respiratory ... ORPHA:79345
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophi... OMIM:169400
Teebi Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Wide nasal bridge, Depressed nasal b... OMIM:145420
Donnai-Barrow Syndrome
Intestinal malrotation, Depressed nasal bridge, Short nose, Ventricular septal defect ORPHA:2143
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Cirrhosis, Villous atrophy, Hypop... ORPHA:84064
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Laryngomalacia, Cleft palate, Prominent nasal br... ORPHA:261190
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Ventricular septal defect ORPHA:93267
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Anteverted nares, Dep... ORPHA:75389
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Diamond-Blackfan Anemia 7
Esophagitis, Ventricular septal defect, Secundum atrial septal defect, Choanal atresia, Neutropen... OMIM:612562
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Dysphagia, Cough, Gastroesop... ORPHA:96170
Inverted Duplicated Chromosome 15 Syndrome
High palate, Tetralogy of Fallot, Broad nasal tip, Ventricular septal defect ORPHA:3306
Desbuquois Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect ORPHA:1425
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Protruding tongue, Cleft palat... OMIM:612938
Zimmermann-Laband Syndrome 1
Patent ductus arteriosus, Wide nasal bridge, Hepatomegaly, Aortic root aneurysm, Splenomegaly, Ca... OMIM:135500
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Tetralogy of Fallot, Varicose ... OMIM:153400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal heart morphology, Pulmonary artery sling, Wide nasal bridge, Abnormal pulmonary valve mo... ORPHA:261537
Tetrasomy 9P
Median cleft lip and palate, Pericarditis, Bulbous nose, Abnormal mitral valve morphology, Absent... ORPHA:3310
Kyphoscoliotic Ehlers-Danlos Syndrome
Abnormal nasal bridge morphology, Dextrocardia, Aortic aneurysm, Bicuspid aortic valve ORPHA:536545
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Short nose, Respiratory distress, Ventricular septal defect, Choanal atresi... OMIM:610536
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency ORPHA:743
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic... ORPHA:2962
Colonic Atresia
Abnormality of mesentery morphology, Colonic atresia, Abdominal situs inversus, Peptic ulcer, Duo... ORPHA:1198
Ritscher-Schinzel Syndrome 2
Protruding tongue, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300963
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, Transposition of the great arteries, Prominent nose OMIM:617982
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Underdeveloped nasal al... ORPHA:163979
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tetralogy of Fallot,... ORPHA:1780
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Abnormal lung lobation, Atrial septal defect, Sleep apnea, Bulbous n... OMIM:614114
Codas Syndrome
Short nose, Extrahepatic biliary duct atresia, Ventricular septal defect, Abnormality of the lary... ORPHA:1458
Opitz Gbbb Syndrome, Type Ii
Hiatus hernia, Atrial septal defect, Aspiration, Ventricular septal defect, Anal stenosis, Dyspha... OMIM:145410
Beaulieu-Boycott-Innes Syndrome
Long nose, Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Wide nasal bridge, Hepatomegaly, Cleft pa... OMIM:235255
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Pleural effusion, High palate, Patent ductus art... OMIM:616564
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, Emphysema, Bicuspid aortic valve, ... OMIM:614816
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Patent ductus arter... ORPHA:261552
Mowat-Wilson Syndrome
Abnormal heart morphology, Pulmonary artery sling, Patent ductus arteriosus, Wide nasal bridge, A... ORPHA:2152
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Spontaneous pneumothorax, Carotid artery dilatation, Arterial... OMIM:610168
Short Stature And Facioauriculothoracic Malformations
Cleft palate, High palate, Ventricular septal defect OMIM:609654
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Asthma, Recurrent r... OMIM:616777
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Respiratory distress, Ventricular septal defect, Pe... ORPHA:26793
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Ventricular septal defect, Pleural effusion, Wide nasal bridge, Pulmonary hypoplasia,... OMIM:616897
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Hepat... ORPHA:227990
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:2519
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:615630
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Biventricular hypertrophy, Left ventr... OMIM:615474
Restrictive Dermopathy
Atrial septal defect, Choanal atresia, Patent ductus arteriosus, Dextrocardia, Pulmonary hypoplas... ORPHA:1662
Zellweger Syndrome
Ventricular septal defect, Pyloric stenosis, Respiratory insufficiency, Wide nasal bridge, Hepato... ORPHA:912
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
High palate, Cleft palate, Obstructive sleep apnea, Ventricular septal defect OMIM:617164
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Neonatal respiratory d... OMIM:618870
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Mosaic Trisomy 16
Meckel diverticulum, Atrial septal defect, Abnormal lung morphology, Ventricular septal defect, A... ORPHA:1708
Gm1 Gangliosidosis
Macroglossia, Broad nasal tip, Ventricular septal defect, Abnormal heart morphology, Dysphagia, G... ORPHA:354
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect, Ascending tubular aorta aneurysm, High palate, L... OMIM:309520
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Bulbous nose, Ventricular septal defect, Gastroesophageal reflux, Patent du... ORPHA:329224
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse, Pulmonary lymphangiectasia, Wide nasal bridge OMIM:247410
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Aortic atherosclerotic lesion, Co... ORPHA:363618
Adams-Oliver Syndrome
Cirrhosis, Abnormal pulmonary valve morphology, Thrombocytopenia, Congenital hepatic fibrosis, Ar... ORPHA:974
Kleefstra Syndrome
Macroglossia, Dyspnea, Short nose, Ventricular septal defect, Coarctation of aorta, Gastroesophag... ORPHA:261494
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Wide nasal bridge, Cleft pal... ORPHA:2008
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Mitral valve prolapse, Hepatic arteriovenous malformation, A... OMIM:175050
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Aortic v... OMIM:601808
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Interrupted aortic arch, Hepatic steatosis, Patent ductus arterios... ORPHA:17
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Apneic episodes in infancy, Recurrent upper respiratory tract infections, Ventricular... ORPHA:3078
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Gastroesophageal reflux, Ventricul... ORPHA:79243
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Ventricular septal defect, Jaundice, Right ventricular hypertrophy, Cholest... OMIM:613404
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Wide nasal bridge, Ventricular septal defect OMIM:617360
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Anter... OMIM:617159
Varicose Veins
Varicose veins OMIM:192200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Giant cell hepatitis, Ventricular septal defect, Jaundice, Right ventricula... OMIM:208085
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Biliary cirrhosis, Abnormal pulmonary interstitial morphology, Hepat... ORPHA:227982
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Ventricular septal defect OMIM:601357
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Chronic noninfectious lymphadenopathy, Abnormal vena cava morphology, N... ORPHA:97289
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Narrow palate, Ventricular septal defect, Pleural effusion, Pericardial eff... OMIM:235510
Trisomy 13
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High, na... ORPHA:3378
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Wide nasal bridge, Interrupted aortic arch, Depressed nasal br... OMIM:267000
19P13.3 Microduplication Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Gastroesophageal reflux, Cleft palate, Pulm... ORPHA:447980
Autosomal Dominant Polycystic Kidney Disease
Hepatic cysts, Pancreatic cysts, Polycystic liver disease, Dilatation of the cerebral artery, Aor... ORPHA:730
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Morphological abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal hear... ORPHA:404440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Ventricular septal defect ORPHA:77298
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect, Patent ductus a... OMIM:605275
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Bulbous nose, Short nose, Ventricular septal defect, Abnormal heart morphology, Wid... ORPHA:369891
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Arterial dissection, Vascular dilatation, Abnormal venous morphology, Recu... ORPHA:1900
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Respiratory dis