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Genes Phenotypes Help, News, Blog

Gene: Ccn1 MGI:88613

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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:
cellular communication network factor 1
Synonyms:
Cyr61,  CCN1

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 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
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Conotruncal Heart Malformations
Transposition of the great arteries, Double outlet right ventricle, Complete atrioventricular can... OMIM:217095
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Partial atrioventricular canal defect, Primum atrial septal defect OMIM:619608
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... OMIM:613854
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, 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
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... OMIM:613751
Atrioventricular septal defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cardiomyopathy, Dilated, 2D
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... OMIM:619371
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Congenital Myopathy 11
Patent foramen ovale, Atrial septal defect OMIM:619967
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
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
White Forelock With Malformations
Atrial septal defect OMIM:277740
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Li-Campeau Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:614676
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect OMIM:614868
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ... OMIM:619702
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Hypoplastic Left Heart Syndrome
Mitral stenosis, Mitral atresia, Hypoplastic left heart, Atrial septal defect ORPHA:2248
Chromosome 1P36 Deletion Syndrome, Proximal
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ... OMIM:619343
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... 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
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... ORPHA:3092
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic valve steno... OMIM:614980
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi... OMIM:212093
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... OMIM:306955
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:619149
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:614261
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy ORPHA:88630
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Aortic Valve Disease 2
Aortic valve stenosis, Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve OMIM:614823
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardi... OMIM:264480
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect ORPHA:89844
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect OMIM:616854
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Abnormal heart morphology, Atrial septal defect OMIM:614954
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect OMIM:615996
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morphology OMIM:615009
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:500159
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame... OMIM:615474
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:261243
Down Syndrome
Atrioventricular canal defect, Double outlet right ventricle, Patent foramen ovale, Ventricular s... OMIM:190685
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Parachute mitral ... OMIM:618316
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:618950
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect OMIM:610883
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Atrial septal defect ORPHA:329224
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Death in childhood, Ventricular septal defect OMIM:613759
Transketolase Deficiency
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect ORPHA:488618
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Adams-Oliver Syndrome 5
Pulmonic stenosis, Patent foramen ovale, Right atrial enlargement, Right ventricular hypertrophy OMIM:616028
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect OMIM:618494
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Death in infancy, Spina bifida, Bicuspid... ORPHA:1120
Cardiac Diverticulum
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe... ORPHA:1686
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:208085
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect OMIM:614961
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:606003
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Situs inversus totalis, Unbalanced atrioventricular canal defect, ... OMIM:618300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:369891
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:609053
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:618870
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Laubry-Pezzi Syndrome
Patent foramen ovale, Ventricular septal defect, Subarterial ventricular septal defect, Perimembr... ORPHA:99094
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Patent foramen ovale, Atrial septal defect OMIM:620075
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy OMIM:616866
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
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
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Noonan Syndrome 3
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp... OMIM:609942
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect OMIM:612582
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:270450
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... ORPHA:457279
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:618499
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Atrial septal defect OMIM:618330
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arrhythmia OMIM:617021
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect OMIM:613355
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:617063
Okamoto Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... ORPHA:2729
Leopard Syndrome 1
Subvalvular aortic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy, Complete atriove... OMIM:151100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect OMIM:263630
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... ORPHA:216694
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect OMIM:612946
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Patent foramen ovale OMIM:602613
Distal Xq28 Microduplication Syndrome
Patent foramen ovale ORPHA:293939
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Heart Defects, Congenital, And Other Congenital Anomalies
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... OMIM:600001
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Mitral valve prolapse, Pulmonic stenosis, Abnormal heart valve morphology ORPHA:228410
Congenital Alveolar Capillary Dysplasia
Atrioventricular canal defect, Pulmonary valve atresia, Ventricular septal defect, Bicuspid aorti... ORPHA:210122
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect OMIM:618748
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale OMIM:607143
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Patent foramen ovale, Atrial septal defect OMIM:619184
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventricular canal defect, Ve... OMIM:619534
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Pseudo-Torch Syndrome 1
Patent foramen ovale OMIM:251290
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Mitral valve prolapse, Short ... OMIM:314400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618974
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Megalencephaly
Atrial septal defect ORPHA:2477
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal d... ORPHA:508488
Zaki Syndrome
Patent foramen ovale OMIM:619648
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Lambert Syndrome
Ventricular septal defect ORPHA:1296
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:401935
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Mesocardia, ... OMIM:605376
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect OMIM:620113
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Total anomalous pulmo... ORPHA:261183
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Ebstein anomaly of the tricuspid... ORPHA:1880
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Tetralogy of Fallot, Complete atrioventricular canal defect OMIM:617925
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Woods Syndrome
Ventricular septal defect OMIM:615236
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... ORPHA:2299
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of pericardium, Atrial sept... ORPHA:2847
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum mo... ORPHA:209905
Mass Syndrome
Mitral valve prolapse OMIM:604308
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... ORPHA:1457
Chops Syndrome
Patent foramen ovale, Anomalous pulmonary venous return, Ventricular septal defect OMIM:616368
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy OMIM:619492
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid valve, Atrial septal defec... ORPHA:2255
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:613870
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... OMIM:249420
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
White-Sutton Syndrome
Patent foramen ovale, Atrial septal defect OMIM:616364
Scimitar Syndrome
Truncus arteriosus, Heart block, Double outlet right ventricle, Ventricular septal defect, Atrial... ORPHA:185
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Hydrolethalus Syndrome 1
Ventricular septal defect, Anencephaly, Arrhinencephaly, Complete atrioventricular canal defect, ... OMIM:236680
Loeys-Dietz Syndrome 5
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:615582
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Valvular pulmonary stenosis OMIM:300707
Fibrochondrogenesis 1
Patent foramen ovale OMIM:228520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Patent foramen ovale, Pulmonary valve atresia, Ventricular septal ... OMIM:265380
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Noonan Syndrome 8
Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi... OMIM:615355
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, ... ORPHA:163956
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:619657
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Death in childhood, Ventricular septal defect, Cardiac ... OMIM:608978
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent foramen ovale OMIM:618076
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Umbilical hernia, Large placenta ORPHA:254534
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613457
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:179613
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Sweeney-Cox Syndrome
Patent foramen ovale OMIM:617746
Tyshchenko Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615102
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... ORPHA:7
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Atrial ... OMIM:601927
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Death in childh... OMIM:612938
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Abnormal mitral valve morphology, Bundle branch block, Mitral valv... ORPHA:500
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Patent foramen ovale, Ventricular septal defect OMIM:616894
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium OMIM:619143
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent foramen ovale, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:617506
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Atrial septal defect OMIM:300963
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:619769
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Subaortic ventricular septal bulge, Left ventricular hypertrophy, At... OMIM:612098
Alg12-Cdg
Patent foramen ovale, Biventricular hypertrophy, Muscular ventricular septal defect ORPHA:79324
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect OMIM:618142
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Ventricular ... ORPHA:290
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect OMIM:619268
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Umbilical hernia OMIM:617751
Combined Oxidative Phosphorylation Deficiency 3
Patent foramen ovale, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy OMIM:610505
Diabetic Embryopathy
Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Abnormality of the pulm... ORPHA:1926
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Ventricular septal defect, Atrial septal defect OMIM:618067
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale ORPHA:505248
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect OMIM:617660
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... ORPHA:3426
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect OMIM:615502
Central Core Disease
Mitral valve prolapse ORPHA:597
Opitz Gbbb Syndrome
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect ORPHA:2745
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Alagille Syndrome 2
Tetralogy of Fallot, Pulmonic stenosis, Atrial septal defect OMIM:610205
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Ventricular septal defect OMIM:269860
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... OMIM:600987
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Noncompaction cardiomyopathy, Atrial septal defect OMIM:610198
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect ORPHA:352490
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Ventricular septal defect OMIM:618454
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Mitral stenos... OMIM:605275
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect OMIM:611134
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Gabriele-De Vries Syndrome
Patent foramen ovale OMIM:617557
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:75389
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Atrioventricular canal defect, Right atrial isomerism, Ascending tubula... OMIM:270100
Filippi Syndrome
Ventricular septal defect OMIM:272440
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Situs inversus totalis, Pulmonic stenosis OMIM:609008
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupt... OMIM:617478
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Dilated cardiomyopathy OMIM:145350
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Mucolipidosis Type Ii
Patent foramen ovale, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Left ve... ORPHA:576
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... ORPHA:2876
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale ORPHA:457395
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Eisenmenger Syndrome
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... ORPHA:97214
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Atrial septal defect OMIM:301039
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect OMIM:608572
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... OMIM:157800
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Dextrocardia, Transposition of the great arteries OMIM:314390
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Persistent fetal circulation, Ventricu... ORPHA:363705
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Atrial septal defect, Dysplastic tricuspid valve, Dysplastic pulmonary val... OMIM:612863
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:603387
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp... ORPHA:363700
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613884
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Situs inve... ORPHA:1908
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Noonan Syndrome 10
Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ... OMIM:616564
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Atrial septal defect ORPHA:280633
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the tricuspid valve, Left ven... ORPHA:466791
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect ORPHA:2549
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Death in infancy ORPHA:452
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Right ventricular hypertrophy OMIM:613177
Khan-Khan-Katsanis Syndrome
Patent foramen ovale OMIM:618460
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Overriding aorta, Pulmo... ORPHA:3304
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve OMIM:617137
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect, Mitral regurgitation, Umbilical hernia, Tricuspi... OMIM:615879
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent foramen ovale, Ventricular septal defect OMIM:616975
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Patent foramen ovale ORPHA:17
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:2143
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... OMIM:300855
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent foramen ovale, Atrial septal defect OMIM:620005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale OMIM:618653
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Sick Sinus Syndrome 2
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:163800
Prune Belly Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect ORPHA:2970
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect OMIM:121050
Meacham Syndrome
Conotruncal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Anom... ORPHA:3097
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale OMIM:300990
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale ORPHA:477993
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:2519
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Mandibuloacral Dysplasia Progeroid Syndrome
Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification OMIM:619127
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Truncus Arteriosus
Patent ductus arteriosus, Cardiomegaly, Truncus arteriosus, Anomalous origin of one pulmonary art... ORPHA:3384
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Atrial septal defect ORPHA:1842
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect OMIM:147770
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... OMIM:601186
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pulmonic stenosis, Atrial septal defect OMIM:618282
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:611553
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Mitral valve prolapse, Atrial septal defect OMIM:300986
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Pulmonic stenosis, Ventricular septal defect ORPHA:3071
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:444077
Hardikar Syndrome
Partial anomalous pulmonary venous return, Patent foramen ovale, Ventricular septal defect, Atria... OMIM:301068
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... OMIM:601808
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:90308
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Cranioectodermal Dysplasia 2
Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect OMIM:613610
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Atrial septal defect, Multiple muscular ventricular septal defects OMIM:620070
Cat Eye Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:115470
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Distal Monosomy 19P13.3
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Rubinstein-Taybi Syndrome 1
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Mitral... OMIM:180849
Cooper-Jabs Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1488
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Distal Monosomy 12Q
Patent foramen ovale, Congenital hypertrophy of left ventricle ORPHA:96149
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Branchial anomaly, Ventricular s... ORPHA:453499
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Pelger-Huet Anomaly
Ventricular septal defect, Umbilical hernia OMIM:169400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Pentalogy Of Cantrell
Abnormal pericardium morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal de... ORPHA:1335
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Death in infancy, Mitral stenosis, Atrial septal d... ORPHA:2008
Mosaic Trisomy 16
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... ORPHA:1708
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Perimembrano... ORPHA:363444
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Mitral valve prolapse ORPHA:2848
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale ORPHA:391487
Thanatophoric Dysplasia
Atrial septal defect ORPHA:2655
Kabuki Syndrome 2
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Coarctation of aorta OMIM:300867
Bdv Syndrome
Atrial septal defect OMIM:619326
Thanatophoric Dysplasia Type 2
Atrial septal defect ORPHA:93274
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Bartsocas-Papas Syndrome 1
Patent foramen ovale OMIM:263650
Stevenson-Carey Syndrome
Atrial septal defect OMIM:611961
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect OMIM:617452
Alazami Syndrome
Atrial septal defect ORPHA:319671
Kagami-Ogata Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Atrial sept... OMIM:608149
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... ORPHA:369929
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:610733
Degcags Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic pulmonary valve... OMIM:619488
Gaucher Disease, Type Iiic
Mitral stenosis, Cardiomegaly, Aortic valve calcification, Mitral valve calcification OMIM:231005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn... ORPHA:438213
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Right ventricular hypertrophy, Atrial septal defect OMIM:267010
Tetraamelia Syndrome 2