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Gene: Dand5 MGI:1344365

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect, Recurrent respiratory infect... OMIM:253300
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Hyp... ORPHA:1209
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
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, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia OMIM:615297
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Sonoda Syndrome
Ventricular septal defect OMIM:270460
White Forelock With Malformations
Atrial septal defect OMIM:277740
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Atrioventricular canal defe... OMIM:616749
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood, Pulmonary artery atresia OMIM:613759
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal d... OMIM:601612
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy OMIM:614876
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recu... OMIM:613807
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Ventricular septal defect, Atrial septal defect OMIM:616898
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Left Isomerism, Double inlet right ventricle, Atrial septal defect... OMIM:619702
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619189
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Myopathy, Congenital, Nonprogressive
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tetralogy o... ORPHA:3426
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Atrial septal defect OMIM:263630
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:601450
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect OMIM:617744
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:618652
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Partial di... ORPHA:2847
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect OMIM:613355
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... OMIM:619657
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Hydranencephaly, Truncus arteriosus OMIM:601355
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... OMIM:612561
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Recurrent upper respiratory tract infections, Ventricular septal defect, Pa... OMIM:619769
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormality of the pul... ORPHA:290
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Total anomalous pulmonary v... ORPHA:261183
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Partial atrioventricular canal defect, Primum atrial septal defect OMIM:619608
Grange Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:613870
Renpenning Syndrome
Heterotaxy ORPHA:3242
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:608406
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia ORPHA:1035
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart ORPHA:1455
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect OMIM:618142
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect OMIM:614300
Prune Belly Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... ORPHA:2970
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot ORPHA:1166
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ovale OMIM:616867
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Megalencephaly
Atrial septal defect ORPHA:2477
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Ventricular septal defect, Congenital lobar ... OMIM:600987
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:329224
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Atrial septal defect OMIM:615502
Lymphatic Malformation 7
Pulmonary edema, Pericardial effusion, Atrial septal defect OMIM:617300
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation ORPHA:2516
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Atrial septal defect, Recurrent respirator... ORPHA:1842
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Encephalocele ORPHA:93274
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Recurrent respiratory infe... OMIM:618950
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:609029
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect ORPHA:75389
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Bilater... OMIM:601186
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:300963
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Atrial septal defect OMIM:601927
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia, Left ventricular hypertrophy, Left ventricular noncompaction, Neonatal deat... OMIM:619167
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect ORPHA:2655
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Cystic pattern on pulmonary HRCT, Elevated bronchoalveolar lavage fluid neu... OMIM:610978
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Combined Oxidative Phosphorylation Deficiency 9
Death in childhood, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... ORPHA:488618
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Meckel Syndrome, Type 4
Atrial septal defect, Anencephaly, Ventricular septal defect, Meningocele, Encephalocele OMIM:611134
Tyshchenko Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:615102
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Death in infancy,... OMIM:208085
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... ORPHA:1880
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular s... ORPHA:1908
Alagille Syndrome 2
Pulmonic stenosis, Peripheral pulmonary artery stenosis, Atrial septal defect, Tetralogy of Fallot OMIM:610205
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormality ... ORPHA:90308
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect OMIM:600123
Aase-Smith Syndrome I
Ventricular septal defect, Death in infancy OMIM:147800
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Situs inversus totali... OMIM:267010
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Mental Retardation, Buenos Aires Type
Atrial septal defect OMIM:249630
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect OMIM:608572
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect OMIM:241310
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Anomalous origin of left pulmonary artery from asce... ORPHA:99050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Ve... ORPHA:284169
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:139466
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of Fallot, Ventricu... ORPHA:1335
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormal lung lobation ORPHA:3378
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615879
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Double outlet right ventricle, Atrial septal... ORPHA:99125
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Agnathia-Otocephaly Complex
Situs inversus totalis, Pulmonary hypoplasia, Secundum atrial septal defect OMIM:202650
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... OMIM:615009
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Cardiomyopathy, Familial Hypertrophic, 11
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial septal defect, Subaortic ventri... OMIM:612098
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Death in infancy OMIM:614576
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Recurrent respiratory ... ORPHA:85202
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Kagami-Ogata Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Pul... OMIM:608149
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect OMIM:608688
Woods Syndrome
Ventricular septal defect OMIM:615236
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:618870
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrioventricular canal defect, Abdominal situs inve... OMIM:619123
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:603387
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... OMIM:615474
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:606003
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... OMIM:612582
Filippi Syndrome
Ventricular septal defect OMIM:272440
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Recurrent upper respiratory tract infections, Tetralogy o... ORPHA:95430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Umbilical hernia, Large placenta, Abnormal heart morphology ORPHA:254534
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Truncus Arteriosus
Pulmonary edema, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralog... ORPHA:3384
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Abnormal pulmona... ORPHA:2257
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Spinal dysr... OMIM:617660
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... ORPHA:363444
Seckel Syndrome 9
Pulmonary artery hypoplasia, Ventricular septal defect, Atrial septal defect, Recurrent respirato... OMIM:616777
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Patent ductus arteriosus, Death in infancy ORPHA:452
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Recurrent pneumonia OMIM:616651
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricul... OMIM:616564
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypert... OMIM:612938
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Spinal dysraphism, Transposition of the great art... ORPHA:1926
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele OMIM:601357
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Atrial septal defect OMIM:301039
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:270450
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Diets-Jongmans Syndrome
Ventricular septal defect, Umbilical hernia, Heterotaxy OMIM:618846
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... OMIM:115470
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Patent foramen ovale OMIM:615539
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... ORPHA:96170
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect ORPHA:2519
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect, Death in infancy, Recurrent respiratory infections ORPHA:1790
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect OMIM:619909
Noonan Syndrome 5
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:611553
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect OMIM:617452
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Tetralogy of Fallot, T... ORPHA:980
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Neonatal death, Situs inversus totalis, Pulmonary hy... OMIM:208540
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pn... ORPHA:26793
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Umbilical hernia, Abnormal heart morphology ORPHA:369891
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:618027
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal heart morphology ORPHA:485405
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... OMIM:613001
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pa... ORPHA:363705
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ova... OMIM:616866
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... OMIM:612863
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Congenital Heart Defects And Skeletal Malformations Syndrome
Pneumothorax, Ventricular septal defect, Atrial septal defect OMIM:617602
Brain-Lung-Thyroid Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal pulmonary interstitial morphol... ORPHA:209905
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Death in i... ORPHA:2008
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Atrial septal defect OMIM:614857
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect ORPHA:435638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... ORPHA:457279
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:2143
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Atrial septal defect, Death in childhood, Patent ductus ar... OMIM:617303
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:505237
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Atrial septal defect, Recurrent respiratory infections OMIM:619383
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Umbilical hernia OMIM:616145
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... OMIM:616028
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:610733
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Spina bifida occulta, Ventricular s... OMIM:201000
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Situs inversus totalis, Ventricular septal d... ORPHA:289
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:617061
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect OMIM:145420
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:220500
Noonan Syndrome 7
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:613706
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Abnormal lung lobati... ORPHA:99776
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect ORPHA:457193
Buratti-Harel Syndrome
Atrial septal defect, Recurrent pneumonia OMIM:619314
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... OMIM:264480
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Death in infancy, Right ventricular hypertrophy OMIM:613404
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Neonatal death, Ventricular septal defect, Patent ductus arteriosus, Corona... OMIM:620024
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot OMIM:617159
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopathy, C... OMIM:616897
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Alazami Syndrome
Atrial septal defect ORPHA:319671
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial septal defect ORPHA:1860
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Mitral valve prolapse, Patent foram... OMIM:212093
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral valve prolapse, Pa... OMIM:121050
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect, Secundum atrial septal defect OMIM:618109
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricu... OMIM:605275
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Stevenson-Carey Syndrome
Atrial septal defect OMIM:611961
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent ductus art... ORPHA:99094
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Congenital Disorder Of Glycosylation, Type Ig
Respiratory tract infection, Patent ductus arteriosus, Patent foramen ovale, Recurrent respirator... OMIM:607143
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect, Spina bifida occulta OMIM:617360
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:254346
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Alagille Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Atrial septal defect, Spina bifi... ORPHA:52
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect, Recurrent respiratory infections OMIM:615508
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Mosaic Trisomy 16
Atrial septal defect, Large placenta, Ventricular septal defect, Pulmonary hypoplasia, Patent duc... ORPHA:1708
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Pericardial effusion, Peri... OMIM:235510
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:244300
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
22Q11.2 Duplication Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic ... ORPHA:1727
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Perimembranous ventric... OMIM:158170
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Death in infancy, Abnormal lung lobation OMIM:300514
Cooper-Jabs Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1488
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse OMIM:619980
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Umbilical hernia ORPHA:1292
Pelger-Huet Anomaly
Ventricular septal defect, Umbilical hernia OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Mitral valve prolapse, Atrial septal defect OMIM:300986
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Abnormal lung lobation OMIM:614114
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... ORPHA:96167
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Recurrent upper respiratory tract infections ORPHA:3078
Noonan Syndrome 13
Mitral valve prolapse, Atrial septal defect OMIM:619087
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s... OMIM:617063
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale, Umbilical hernia OMIM:618914
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... ORPHA:2255
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Muscular ventricular s... OMIM:117550
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy OMIM:616730
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Ventricular septal defect, Death in infancy, Recurrent respiratory infections... OMIM:243150
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Patent foramen ovale, Death in infancy OMIM:602613
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect OMIM:619720
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Atrial septal defect, Umbilical hernia ORPHA:404443
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Secundum atrial septal defect, Pleural effusion OMIM:617397
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Pulmonary artery atresia ORPHA:2876
Distal Tetrasomy 15Q
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:314588
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Diamond-Blackfan Anemia 7
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect, Tetralogy of ... OMIM:612562
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect OMIM:605822
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Bdv Syndrome
Atrial septal defect OMIM:619326
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect OMIM:300998
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:363528
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery steno... ORPHA:79345
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1770
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Atrial septal defect OMIM:309520
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2328
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplasia OMIM:611812
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect OMIM:609625
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Encep... OMIM:100300
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Codas Syndrome
Ventricular septal defect ORPHA:1458
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect OMIM:614749
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Recurrent respiratory infections, Umbilical hernia OMIM:619758
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Atrial septal defect ORPHA:436003
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Death in childhood, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Abs... OMIM:600460
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:397709
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... ORPHA:230851
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect ORPHA:261311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Recurrent aspiration pneumonia, Patent ductus arteriosus, Recurrent pn... OMIM:300472
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Gm1 Gangliosidosis
Aspiration pneumonia, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Recurr... ORPHA:354
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia OMIM:251290
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261236
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610759
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Ogden Syndrome
Ventricular septal defect, Pulmonary artery stenosis ORPHA:276432
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy OMIM:618348
Distal Monosomy 10Q
Patent ductus arteriosus, Atrial septal defect, Spina bifida occulta ORPHA:96148
17Q23.1Q23.2 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:261279
White-Sutton Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:616364
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:153400
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Recurrent respiratory infections ORPHA:217346
Mckusick-Kaufman Syndrome
Atrial septal defect, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pat... ORPHA:2473
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, Pulmonary artery atr... OMIM:301056
Aortic Arch Interruption
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... ORPHA:2299
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Recurrent pneumonia OMIM:619179
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Pulmonary artery dilatation, Atrial septal defect OMIM:613834
Bohring-Opitz Syndrome
Ventricular septal defect, Atrial septal defect OMIM:605039
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Death in childhood, Dilated cardiomyopathy, Patent ductus... OMIM:610505
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect ORPHA:2728
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia, Ventricular septal defect, Patent ductus... OMIM:616368
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Atrial septal defect, Recurrent infections due to aspiration ORPHA:70
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Atrial septal defect OMIM:602482
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular septal defect, Ventricular hypertrophy ORPHA:369929
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect, Hypoplastic l... OMIM:142900
Mogs-Cdg
Left ventricular hypertrophy, Pulmonary edema, Cardiomegaly, Atrial septal defect ORPHA:79330
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Death in infancy OMIM:609069
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Pulmonary lymphangiectasia, Death in infancy OMIM:235255
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Atrial septal defect, Recurrent respiratory infections ORPHA:2637
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610443
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial effusion OMIM:618775
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia, Umbilical hernia ORPHA:96129
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Branchial fistula, Ventricular septal defect, Recurrent respiratory infecti... ORPHA:261330
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect OMIM:618223
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Atrial septal defect, Pneumonia OMIM:603467
Fg Syndrome Type 1
Mitral valve prolapse, Atrial septal defect, Umbilical hernia ORPHA:93932
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Pulmonary hypoplasia, Atrial septal defect OMIM:616546
Genitopatellar Syndrome
Pulmonary hypoplasia, Atrial septal defect ORPHA:85201
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Patent ductus ar... ORPHA:2745
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia OMIM:618454
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Syndromic Diarrhea