Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cellular communication network factor 1
Synonyms:
Cyr61,  CCN1

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 Ccn1 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 Ccn1 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
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Conotruncal Heart Malformations
Transposition of the great arteries, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale OMIM:619967
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
White Forelock With Malformations
Atrial septal defect OMIM:277740
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
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
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... ORPHA:1329
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia ORPHA:2248
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale OMIM:619149
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypoplastic aort... OMIM:306955
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
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
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Pseudotrisomy 13 Syndrome
Encephalocele, Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of ... OMIM:264480
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Aortic Valve Disease 2
Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale OMIM:614823
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect OMIM:614954
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:261243
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:615668
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect ORPHA:500159
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... OMIM:615474
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Congenital Heart Block
Pericardial effusion, Endocardial fibroelastosis, Patent foramen ovale ORPHA:60041
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Transketolase Deficiency
Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:488618
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:329224
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Right ventricular hypertrophy, Patent foramen ovale OMIM:616028
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Atrial septal defect, Ventricular ... OMIM:615996
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618494
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Atrioventricular canal defect, Abnormal aortic valve morphology, Death i... ORPHA:1120
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect ORPHA:369891
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect OMIM:614961
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618870
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Transaldolase Deficiency
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:606003
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Patent fora... OMIM:619167
Genitopalatocardiac Syndrome
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect OMIM:231060
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy OMIM:616866
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:208085
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale OMIM:620327
Laubry-Pezzi Syndrome
Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... ORPHA:99094
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Hamamy Syndrome
Complete atrioventricular canal defect, Atrial septal defect OMIM:611174
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale OMIM:618914
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:612582
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... OMIM:151100
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:457279
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:617063
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe... ORPHA:26793
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Abnormal heart morphology, Atrioventricular canal de... ORPHA:508488
Distal Xq28 Microduplication Syndrome
Patent foramen ovale ORPHA:293939
Hadziselimovic Syndrome
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect OMIM:612946
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:228410
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Pseudo-Torch Syndrome 1
Patent foramen ovale OMIM:251290
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy of Fallot, Patent forame... OMIM:600001
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Short chordae tendineae of th... OMIM:314400
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:401935
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:618748
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Zaki Syndrome
Patent foramen ovale OMIM:619648
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Atrioventricular canal d... OMIM:619534
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect OMIM:620113
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Cardiomyopathy, Ventricular septal defect OMIM:249270
Megalencephaly
Atrial septal defect ORPHA:2477
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Atrioventricular canal defect, Situs inversus totalis, Mesocardia, Transpo... OMIM:605376
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Complete atrioventricular canal defect, Neonatal death OMIM:617925
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Woods Syndrome
Ventricular septal defect OMIM:615236
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Abnormal descending aorta morphology, Co... ORPHA:99050
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Mass Syndrome
Mitral valve prolapse OMIM:604308
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Atrial septal defect, Abnormal cardiac septum morphology, Ventricular septa... ORPHA:209905
Chops Syndrome
Patent foramen ovale, Anomalous pulmonary venous return, Ventricular septal defect OMIM:616368
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:613870
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetralogy of Fallot, Hypoplasi... ORPHA:2255
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale OMIM:607143
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
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
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Scimitar Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... ORPHA:185
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
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
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Lymphatic Malformation 13
Atrial septal defect, Patent foramen ovale OMIM:620244
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616364
Hydrolethalus Syndrome 1
Stillbirth, Anencephaly, Complete atrioventricular canal defect, Ventricular septal defect OMIM:236680
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Loeys-Dietz Syndrome 5
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:615582
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricular septal defect, Double out... ORPHA:163956
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ... OMIM:601927
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Large placenta, Ventricular septal defect, Umbilical hernia ORPHA:254534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... OMIM:615355
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale OMIM:300707
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Fibrochondrogenesis 1
Patent foramen ovale OMIM:228520
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613457
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Double outlet right ventricle, Patent foramen ovale, Ventricular septal d... OMIM:301043
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Tetralogy of Fallot, Atrioventricular canal defec... OMIM:265380
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent foramen ovale OMIM:618076
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defec... OMIM:617506
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Right aortic arch, Scimitar anomaly, Death in childh... OMIM:608978
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Sweeney-Cox Syndrome
Patent foramen ovale OMIM:617746
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:619769
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Death in childhood, Ventricular septal defect, Pat... OMIM:612938
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium OMIM:619143
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Atrial septal defect, Ventricular septal defect OMIM:618142
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Patent foramen ovale, Ventricular septal defect OMIM:616894
Central Core Disease
Mitral valve prolapse ORPHA:597
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:617751
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve... OMIM:600987
Alg12-Cdg
Biventricular hypertrophy, Patent foramen ovale, Muscular ventricular septal defect ORPHA:79324
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... OMIM:612098
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619268
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect OMIM:615502
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Patent foramen ovale, Atrial septal defect, Hypertrophic cardiomyopathy ORPHA:505248
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitral stenosis OMIM:617660
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art... ORPHA:3426
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect ORPHA:352490
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Ventricular septal defect OMIM:618454
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Opitz Gbbb Syndrome
Abnormal heart morphology, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:2745
Alagille Syndrome 2
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis OMIM:610205
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Dilated cardiomyopathy, Atrial septal defect OMIM:610198
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Gabriele-De Vries Syndrome
Patent foramen ovale OMIM:617557
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Ventricular septal defect OMIM:269860
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Mucolipidosis Type Ii
Cardiomyopathy, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Patent forame... ORPHA:576
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Pulmonary artery stenosis, Ventricular septal ... ORPHA:3427
Filippi Syndrome
Ventricular septal defect OMIM:272440
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta, Dextrocardia, Atrioventricular canal defect OMIM:618929
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Death in infancy, Ventricular se... OMIM:617478
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... OMIM:157800
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale ORPHA:457395
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia OMIM:314390
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Keutel Syndrome
Pulmonary artery stenosis, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:601186
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L... OMIM:616564
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Double outlet right vent... ORPHA:371428
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613884
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Prader-Willi Syndrome Due To Translocation
Abnormal heart morphology, Patent foramen ovale ORPHA:177907
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Death in infancy, Ventricular septal defect ORPHA:452
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect ORPHA:2549
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Patent foramen ovale, Ventricular septal defect, Left ventric... ORPHA:466791
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atria... OMIM:615879
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defe... OMIM:612863
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Khan-Khan-Katsanis Syndrome
Patent foramen ovale OMIM:618460
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... ORPHA:363700
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:2143
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale OMIM:617137
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Overriding aorta, Double outlet right ventricle, Atrial septal defect, Pulmo... ORPHA:3304
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Patent foramen ovale ORPHA:17
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect, Meningocele OMIM:620511
Cutis Laxa, Autosomal Recessive, Type Ic
Right ventricular hypertrophy, Patent foramen ovale OMIM:613177
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Cutis Laxa, Autosomal Recessive, Type Iic
Biventricular hypertrophy, Patent foramen ovale, Atrial septal defect, Mitral valve prolapse OMIM:617402
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale OMIM:618653
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... OMIM:300855
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Ventricular septal defect OMIM:121050
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent foramen ovale, Ventricular septal defect OMIM:616975
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Patent foramen ovale OMIM:620005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale ORPHA:280633
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Prune Belly Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect ORPHA:2970
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Mitral valve prolapse ORPHA:324604
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypert... OMIM:618280
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:2519
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Verheij Syndrome
Truncus arteriosus, Branchial cyst, Ventricular septal defect OMIM:615583
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal defect OMIM:620070
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale ORPHA:477993
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale OMIM:300990
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Atrial septal defect ORPHA:1842
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Ventricular septal defect ORPHA:3071
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Mitral valve calcification, Patent foramen ovale OMIM:619127
Truncus Arteriosus
Interrupted aortic arch, Aortic regurgitation, Pulmonary artery hypoplasia, Abnormal heart morpho... ORPHA:3384
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Umbilical hernia... OMIM:601808
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:611553
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect ORPHA:444077
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Mosaic Trisomy 16
Abnormal heart morphology, Large placenta, Ventricular septal defect, Coarctation of aorta, Atria... ORPHA:1708
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Cooper-Jabs Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1488
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Mitral valve prolapse, Pericarditis ORPHA:2848
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Branchial anomaly, Ventricular septal d... ORPHA:453499
Cranioectodermal Dysplasia 2
Left ventricular hypertrophy, Atrial septal defect, Patent foramen ovale OMIM:613610
Tetrasomy 15Q26
Atrial septal defect OMIM:614846
Pelger-Huet Anomaly
Ventricular septal defect, Umbilical hernia OMIM:169400
Ectopia Lentis 1, Isolated, Autosomal Dominant
Mitral valve prolapse OMIM:129600
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:90308
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Death in infancy, Ventricular septal defect, Truncus arteri... ORPHA:2008
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Atrial septal defect OMIM:175700
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Right atrial enlargement, Mitral valve prolapse ORPHA:555877
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Perimembranous ventricular septal defect, Atrial septal defect, Muscul... ORPHA:363444
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... OMIM:180849
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Bdv Syndrome
Atrial septal defect OMIM:619326
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, Ventricular septal de... ORPHA:1335
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Distal Deletion 12Q