Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DAN domain family member 5, BMP antagonist
Synonyms:
Cerl-2,  Cerr2,  Cerl2,  coco,  Dte,  GREM3

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 Dand5 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 Dand5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Death in childhood, Ventricular septal de... OMIM:253300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615297
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Heterotaxy, Visceral, 7, Autosomal
Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Mitral atres... OMIM:616749
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
White Forelock With Malformations
Atrial septal defect OMIM:277740
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Right Atrial Isomerism
Common atrium, Total anomalous pulmonary venous return, Abnormal lung lobation, Tetralogy of Fall... OMIM:208530
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal d... OMIM:601612
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Death in childhood, Ventricular septal defect OMIM:613759
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator... OMIM:613807
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect OMIM:616898
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect OMIM:618330
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... OMIM:617205
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Common atrium, Double inlet right ventricle, Dextrotransposition of the g... OMIM:619702
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:261243
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Congenital Myopathy 11
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Cardiomyopathy, Ventricular septal defect OMIM:249270
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Death in... ORPHA:1120
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect OMIM:614954
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Ventricular septal defect, Truncus arter... ORPHA:3426
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Dea... OMIM:608978
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect OMIM:617744
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Card... OMIM:620642
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotran... OMIM:613751
Scimitar Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... ORPHA:185
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... OMIM:618652
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect OMIM:616277
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Patent ductus arte... ORPHA:2248
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Situs... ORPHA:3097
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Ventricular ... OMIM:619769
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Anomalous origin of ri... OMIM:610338
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Left ventricular hypert... OMIM:615355
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
Atelis Syndrome 1
Atrial septal defect, Bronchiectasis, Ventricular septal defect OMIM:620184
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Ventricular septal defect OMIM:601355
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Timothy Syndrome
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... OMIM:601005
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... OMIM:270100
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect, Umbilical hernia ORPHA:352490
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Genitopalatocardiac Syndrome
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect OMIM:231060
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Agenesis of pulmonary vessels, Tetralogy of Fallot, Alveolar capillary d... OMIM:601186
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:600987
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Renpenning Syndrome
Heterotaxy ORPHA:3242
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:613870
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect ORPHA:1166
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect ORPHA:1455
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Prune Belly Syndrome
Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrial septal de... ORPHA:2970
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricul... ORPHA:500159
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... ORPHA:392
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Chromosome 5Q12 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:615668
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial ... ORPHA:329224
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent sinusitis, Atrial septal defect, Recurrent respiratory infections,... OMIM:618282
Megalencephaly
Atrial septal defect ORPHA:2477
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Atrial septal defect, Patent foramen ovale, Ventricular septal ... OMIM:618950
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia ORPHA:1035
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal lung lobation ORPHA:2516
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Patent foramen oval... OMIM:619167
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Atrial septal defect OMIM:615502
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Death in childhood, Ventricular septal def... OMIM:620609
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:601927
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Thanatophoric Dysplasia Type 2
Encephalocele, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:93274
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Umbilical hernia OMIM:618205
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect OMIM:620210
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect, Patent ductu... ORPHA:1842
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Congenital Heart Block
Endocardial fibroelastosis, Pleural effusion, Patent foramen ovale, Pericardial effusion, Patent ... ORPHA:60041
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal defect, Death i... OMIM:620070
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Meningocele, Anencephaly OMIM:611134
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis OMIM:610205
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
White Forelock With Malformations
Spina bifida occulta, Atrial septal defect ORPHA:2475
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia OMIM:202650
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Death in infancy, Truncus arteriosus, Ventricular septal defect, Atrial sept... OMIM:617478
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Thanatophoric Dysplasia
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618494
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Ventricular sep... ORPHA:85202
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale OMIM:614582
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormality ... ORPHA:90308
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:618354
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Anomalous origin of right pulmonary artery from ascending aorta, Tetralog... ORPHA:99050
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Dilated cardiomyopathy, Atrial septal defect OMIM:610198
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis, Pulmonary hypoplasia ORPHA:139466
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Patent d... OMIM:617751
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect OMIM:241310
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Atrial septal defect, Umbilical hernia OMIM:175700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Right ve... OMIM:208085
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Ri... OMIM:267010
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, A... ORPHA:1335
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615879
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Emanuel Syndrome
Aortic valve stenosis, Recurrent sinusitis, Ventricular septal defect, Truncus arteriosus, Atrial... OMIM:609029
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618870
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect OMIM:126320
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Trisomy 13
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal lung lobation ORPHA:3378
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Atrial se... OMIM:612582
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Overriding aorta, Double outlet right ventricle, Atrial septal defect, Paten... ORPHA:3304
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Umbilical hernia, Large placenta, Ventricular septal defect ORPHA:254534
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Kagami-Ogata Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Pul... OMIM:608149
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Lymphatic Malformation 7
Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Pericardial effusion OMIM:617300
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... OMIM:612098
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall... ORPHA:3384
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Atrial septal defect, Death in infancy, Ventricular septal defect OMIM:614576
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Death in infancy, Ventricular septal defect ORPHA:452
Transaldolase Deficiency
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:606003
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Ventricular ... OMIM:616777
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Woods Syndrome
Ventricular septal defect OMIM:615236
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Patent ductus arteriosus, Pu... OMIM:616866
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect OMIM:614815
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Ventricular septal defect OMIM:616901
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Roifman Syndrome
Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect OMIM:616651
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal d... ORPHA:1926
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal heart morphology, Umbilical hernia, Patent foramen ovale, Ventricular septal defect ORPHA:369891
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Hypomandibular Faciocranial Dysostosis
Death in infancy, Recurrent respiratory infections, Atrial septal defect, Patent ductus arteriosus ORPHA:1790
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... OMIM:617660
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula... OMIM:616564
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Death in childhood, Ventricular septal defect, Pat... OMIM:612938
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect, Pulmonary hypoplasia OMIM:145420
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal... OMIM:600001
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:485405
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal... ORPHA:26793
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:220500
Emanuel Syndrome
Aortic valve stenosis, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Recur... ORPHA:96170
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect OMIM:601357
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Diets-Jongmans Syndrome
Umbilical hernia, Heterotaxy, Ventricular septal defect OMIM:618846
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:611553
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Umbilical hernia, Ventricular septal defec... OMIM:601808
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect OMIM:619383
Adams-Oliver Syndrome 5
Umbilical hernia, Patent foramen ovale, Right atrial enlargement, Right ventricular hypertrophy, ... OMIM:616028
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Situs inversus totalis, Neonatal death, Atrial septal defect, Patent ductu... OMIM:208540
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu... OMIM:613001
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Abnor... ORPHA:209905
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Atrial septal defect, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:2519
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Atrial septal defect OMIM:614857
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Death in infancy, Truncus arteriosus, Ventricular septal de... ORPHA:2008
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Pulmonary... OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:617061
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... ORPHA:3427
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:620327
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Hypertrophic cardiomyopathy, Death in childhood, Atrial septal defect, Recur... OMIM:617303
Carpenter Syndrome 1
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arte... OMIM:201000
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect ORPHA:435638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:457279
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Ellis Van Creveld Syndrome
Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis... ORPHA:289
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... OMIM:615474
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... OMIM:612863
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect OMIM:608776
Contractural Arachnodactyly, Congenital
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... OMIM:121050
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... OMIM:611812
Buratti-Harel Syndrome
Recurrent pneumonia, Atrial septal defect OMIM:619314
Tetrasomy 15Q26
Patent ductus arteriosus, Atrial septal defect OMIM:614846
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Double outlet right vent... ORPHA:371428
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:457193
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... ORPHA:99776
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect OMIM:614961
Thanatophoric Dysplasia Type 1
Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus ORPHA:1860
Alazami Syndrome
Atrial septal defect ORPHA:319671
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Mosaic Trisomy 16
Abnormal heart morphology, Large placenta, Ventricular septal defect, Atrial septal defect, Abnor... ORPHA:1708
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Death in infancy, Ventricular septal defect OMIM:613404
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Verheij Syndrome
Truncus arteriosus, Branchial cyst, Ventricular septal defect OMIM:615583
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Pleural effusion, Ventricular septal defect, Atrial septal defect, Pulmonary ly... OMIM:235510
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep... ORPHA:1727
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Recurrent lower respiratory tract infections, Secundum atrial septal defect OMIM:620194
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:617159
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Atrial septal defect, Ventricular septal defect OMIM:616449
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... OMIM:264480
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:254346
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Stevenson-Carey Syndrome
Atrial septal defect OMIM:611961
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Death in infancy, Abnormal lung lobation OMIM:300514
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect OMIM:169400
Alagille Syndrome
Spina bifida occulta, Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular sep... ORPHA:52
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Phaver Syndrome
Myelomeningocele, Pulmonary artery atresia, Ventricular septal defect ORPHA:2876
Laubry-Pezzi Syndrome
Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... ORPHA:99094
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Atrial septal defect, Umbilical hernia ORPHA:404443
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1488
Lymphatic Malformation 13
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Neonatal death OMIM:620244
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Patent ductus arteriosus OMIM:617397
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Ventricular septal defect ORPHA:3078
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect, Abnormal lung lobation OMIM:614114
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia ORPHA:261197
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of... ORPHA:2255
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Death in childhood, Death in infancy, Ventricular septa... OMIM:243150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Atrial septal defect, Ventricular septal defect OMIM:617360
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Aortic Valve Disease 2
Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale OMIM:614823
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Recombinant 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, ... ORPHA:96167
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Repeated pneumothoraces, Ventricular septal defect OMIM:617602
Distal Triplication 15Q
Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia ORPHA:314588
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect OMIM:619720
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale, Umbilical hernia OMIM:618914
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Kapur-Toriello Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:244300
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Umbilical hernia ORPHA:1292
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Umbilical hernia OMIM:619758
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:117550
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Recurrent respiratory infections, Atrial septal defect ORPHA:251061
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal ... OMIM:612562
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Bdv Syndrome
Atrial septal defect OMIM:619326
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:300998
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Pleural effusion, Branchial anomaly, Ve... ORPHA:453499
Shashi-Pena Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:617190
Tarp Syndrome
Tetralogy of Fallot, Atrial septal defect, Neonatal death OMIM:311900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... ORPHA:79345
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:620113
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus, Ventricular septal... OMIM:300472
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:363528
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect OMIM:614749
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Patent ductus arteriosus, Atrial septal defect OMIM:618005
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Atrial septal defect ORPHA:436003
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia OMIM:251290
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Left ventricular hypertrophy, Atrial septal defect, Mitral valve... ORPHA:230851
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Pate... OMIM:600460
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect OMIM:620662
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilical hernia, Emphyse... OMIM:613177
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:276432
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Mogs-Cdg
Pulmonary edema, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis OMIM:614300
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect ORPHA:261311
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Wiedemann-Steiner Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:605130
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se... OMIM:100300
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610443
Short-Rib Thoracic Dysplasia 12
Atelectasis, Patent foramen ovale, Ventricular septal defect, Neonatal death, Anencephaly, Patent... OMIM:269860
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia OMIM:617022
Chops Syndrome
Aspiration pneumonia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:616368
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:397709
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium OMIM:619143
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Atrial septal defect OMIM:602482
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Atrial septal defect ORPHA:70
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale OMIM:619179
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
17Q23.1Q23.2 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:261279
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Hypertrophic cardiomyopathy, Patent foramen ovale, Ventricu... OMIM:617506
White-Sutton Syndrome
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:616364
Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Pulmonary artery dilatation, Atrial septal defect OMIM:613834
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse, Umbilical hernia ORPHA:93932
Distal Deletion 10Q
Spina bifida occulta, Atrial septal defect, Patent ductus arteriosus ORPHA:96148
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:609625
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Recurrent... ORPHA:261330
Microcephaly 30, Primary, Autosomal Recessive