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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
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart 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
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ... OMIM:217095
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... 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
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale OMIM:619967
White Forelock With Malformations
Atrial septal defect OMIM:277740
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... ORPHA:1329
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... OMIM:619343
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, 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
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:619149
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... OMIM:306955
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Aortic Valve Disease 2
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis OMIM:614823
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse OMIM:615539
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:615668
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... OMIM:190685
Congenital Heart Block
Pericardial effusion, Patent foramen ovale, Endocardial fibroelastosis ORPHA:60041
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... OMIM:618316
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Death in childhood OMIM:613759
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement OMIM:616028
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar... ORPHA:860
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology OMIM:618494
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus art... ORPHA:1120
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Congenitally corrected transposition of th... OMIM:618300
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:606003
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618870
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Left ventricular noncompaction, Dilated cardiomyopathy, Patent fora... OMIM:619167
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale OMIM:616866
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale OMIM:620327
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect OMIM:611174
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:612582
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect OMIM:617063
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Leopard Syndrome 1
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... OMIM:151100
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale OMIM:225250
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
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
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular... ORPHA:508488
Distal Xq28 Microduplication Syndrome
Patent foramen ovale ORPHA:293939
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... OMIM:600001
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... ORPHA:210122
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:228410
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Zaki Syndrome
Patent foramen ovale OMIM:619648
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent foramen ovale OMIM:620113
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale OMIM:619184
Pseudo-Torch Syndrome 1
Patent foramen ovale OMIM:251290
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... OMIM:619534
Lambert Syndrome
Ventricular septal defect ORPHA:1296
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Megalencephaly
Atrial septal defect ORPHA:2477
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:249270
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... ORPHA:1880
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot OMIM:617925
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P... ORPHA:99050
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Woods Syndrome
Ventricular septal defect OMIM:615236
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy ORPHA:101028
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... ORPHA:2847
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Mass Syndrome
Mitral valve prolapse OMIM:604308
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... ORPHA:209905
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Chops Syndrome
Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return OMIM:616368
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... ORPHA:1166
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:613870
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale OMIM:607143
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616364
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Lymphatic Malformation 13
Atrial septal defect, Patent foramen ovale OMIM:620244
Hydrolethalus Syndrome 1
Anencephaly, Complete atrioventricular canal defect, Stillbirth, 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
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Loeys-Dietz Syndrome 5
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:615582
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve OMIM:300707
Noonan Syndrome 8
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615355
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Fibrochondrogenesis 1
Patent foramen ovale OMIM:228520
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Partial anomalous pulmo... OMIM:265380
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent foramen ovale OMIM:618076
Sweeney-Cox Syndrome
Patent foramen ovale OMIM:617746
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Umbilical hernia, Hypert... OMIM:612938
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pulmonic stenosis OMIM:617506
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart OMIM:616894
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic... ORPHA:251071
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart OMIM:618142
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale ORPHA:79324
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormal aortic morphology, Tr... ORPHA:1926
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Central Core Disease
Mitral valve prolapse ORPHA:597
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect OMIM:615502
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Hypertrophic cardiomyopathy, Patent foramen ovale, Abnormal heart morphology ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology ORPHA:352490
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:2745
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent foramen ovale OMIM:618454
Gabriele-De Vries Syndrome
Patent foramen ovale OMIM:617557
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent foramen ovale OMIM:269860
3-Methylglutaconic Aciduria, Type V
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:610198
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Cardi... OMIM:605275
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Filippi Syndrome
Ventricular septal defect OMIM:272440
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Atrial septal defect, Right atrial isomerism, Ventricular septal defe... OMIM:270100
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse OMIM:609008
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta OMIM:618929
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aortic valve morphology, Left ventricu... ORPHA:576
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... OMIM:617021
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale ORPHA:457395
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Atrioventricular canal defect, Transposition of the great arteries OMIM:314390
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... OMIM:157800
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... ORPHA:363700
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... ORPHA:466791
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Prader-Willi Syndrome Due To Translocation
Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect ORPHA:2549
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... ORPHA:371428
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... OMIM:616564
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy ORPHA:280633
Khan-Khan-Katsanis Syndrome
Patent foramen ovale OMIM:618460
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, Atrial septal de... OMIM:612863
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Patent foramen ovale ORPHA:17
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Biventricular hypertrophy, Patent foramen ovale, Mitral valve prolapse OMIM:617402
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Right ventricular hypertrophy OMIM:613177
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale OMIM:618653
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Tetralo... ORPHA:3304
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Patent foramen ovale OMIM:620005
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse OMIM:121050
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... ORPHA:3097
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Prune Belly Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale OMIM:300990
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:2519
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale ORPHA:477993
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect OMIM:615583
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects OMIM:620070
Truncus Arteriosus
Aortic regurgitation, Atrial septal defect, Tachycardia, Ventricular septal defect, Anomalous ori... ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Mitral valve calcification, Patent foramen ovale OMIM:619127
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy ORPHA:1842
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:611553
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C... ORPHA:1708
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:444077
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1488
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect OMIM:618109
Tetrasomy 15Q26
Atrial septal defect OMIM:614846
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Hardikar Syndrome
Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return, Paten... OMIM:301068
Cranioectodermal Dysplasia 2
Atrial septal defect, Left ventricular hypertrophy, Patent foramen ovale OMIM:613610
Klippel-Trénaunay Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology ORPHA:90308
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Patent foramen ovale ORPHA:96149
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop... OMIM:180849
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect OMIM:169400
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Perimembranous ventricular septal defec... ORPHA:363444
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Acrocardiofacial Syndrome
Death in infancy, Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal... ORPHA:2008
Bdv Syndrome
Atrial septal defect OMIM:619326
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Alazami Syndrome
Atrial septal defect ORPHA:319671
Pentalogy Of Cantrell
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho... ORPHA:1335
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Stevenson-Carey Syndrome
Atrial septal defect OMIM:611961
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Mitral valve prolapse ORPHA:2848
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Bartsocas-Papas Syndrome 1
Patent foramen ovale OMIM:263650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:620186
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Thanatophoric Dysplasia Type 2
Atrial septal defect ORPHA:93274
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale ORPHA:391487
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Thanatophoric Dysplasia
Atrial septal defect ORPHA:2655
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pul... OMIM:608149
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:438213
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly OMIM:231005
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect OMIM:616777
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Situs inversus totalis OMIM:267010
Ogden Syndrome
Cardiogenic shock, Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia ORPHA:276432
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Degcags Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale, Dysplas... OMIM:619488
Fanconi Anemia, Complementation Group B
Death in infancy, Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:612562
Pseudoaminopterin Syndrome
Patent foramen ovale ORPHA:221120
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Transposition of the g... OMIM:201000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Gabriele-De Vries Syndrome
Ebstein anomaly of the tricuspid valve, Patent foramen ovale ORPHA:506358
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aort... OMIM:600460
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... OMIM:607872
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Death in infancy, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Phace Association
Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Coarctation of aorta, Aor... OMIM:606519
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... ORPHA:230851
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Meningocele, Umbilica... OMIM:130720
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:145420
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Atrial septal defect, Tetralogy of... OMIM:210710
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect OMIM:614857
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect OMIM:617300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:457193
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... OMIM:609029
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect OMIM:602482
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Codas Syndrome
Ventricular septal defect ORPHA:1458
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Alagille Syndrome
Ventricular septal defect, Telangiectasia of the skin, Hypertension, Atrial septal defect, Spina ... ORPHA:52
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent foramen ovale, Transposition of the great arteries OMIM:256520
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Tetralogy o... ORPHA:508498
Tetrasomy 9P
Pericarditis, Dextrocardia, Abnormal cardiac septum morphology, Abnormal mitral valve morphology,... ORPHA:3310
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Trisomy 13
Atrial septal defect, Ventricular septal defect ORPHA:3378
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:353277
Buratti-Harel Syndrome
Atrial septal defect OMIM:619314
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:142900
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244300
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral valve prolapse OMIM:258450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary arter... OMIM:301056
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect OMIM:617061
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle OMIM:614886
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect ORPHA:2728
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse ORPHA:251066
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper... OMIM:100300
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent foramen ovale OMIM:619841
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:254346
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... ORPHA:96170
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... OMIM:608328
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy OMIM:619383
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Distal Deletion 3P
Umbilical hernia, Atrioventricular canal defect ORPHA:1620
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart ORPHA:2473
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Coarctation ... OMIM:274000
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Coffin-Siris Syndrome 12
Tetralogy of Fallot, Patent foramen ovale OMIM:619325
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Patent du... ORPHA:99776
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... OMIM:602782
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616449
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse, Right ventricular d... OMIM:619472
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Coarctation of aorta OMIM:619480
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Bicuspid aortic valve OMIM:619720
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology ORPHA:261311
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Gm1 Gangliosidosis
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:354
Tatton-Brown-Rahman Syndrome
Atrial septal defect ORPHA:404443
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse ORPHA:93932
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
X Small Rings
Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect OMIM:614749
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect ORPHA:261344
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Hypomandibular Faciocranial Dysostosis
Atrial septal defect ORPHA:1790
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect OMIM:611812
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Thanatophoric Dysplasia Type 1
Atrial septal defect ORPHA:1860
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect OMIM:117550
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect ORPHA:3047
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus... ORPHA:261330
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... ORPHA:79329
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect OMIM:222448
De Barsy Syndrome
Umbilical hernia, Patent ductus arteriosus, Hypoplastic aortic arch, Ventricular septal defect ORPHA:2962
Renal Agenesis
Ventricular septal defect ORPHA:411709
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... OMIM:614609
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Neuroocular Syndrome
Patent foramen ovale OMIM:619539
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect ORPHA:436003
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Death in infancy, Ventricular septal defect, Death in childhood OMIM:243150
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect ORPHA:166035
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Restrictive cardiomyopathy, Mitral valve prolapse ORPHA:758
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Ab... ORPHA:2092
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect OMIM:618005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect ORPHA:397709
Distal Triplication 15Q
Atrial septal defect, Abnormal heart morphology ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Ventricular septal defect OMIM:300998
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect ORPHA:261279
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Syndromic Diarrhea
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:84064
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect OMIM:613834
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia OMIM:277380
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79345
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Mitral valve prolapse OMIM:620233
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
7Q31 Microdeletion Syndrome
Atrial septal defect ORPHA:251061
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect OMIM:207410
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydrane... ORPHA:1393
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal d... OMIM:257920
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect OMIM:613309
Autosomal Recessive Robinow Syndrome
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic... ORPHA:1507
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Atrial septal defe... OMIM:235510
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect ORPHA:457351
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology ORPHA:85438
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... OMIM:301030
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Robinow Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Pulmonic stenosis, At... ORPHA:97360
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot OMIM:311900
Mogs-Cdg
Atrial septal defect, Left ventricular hypertrophy, Cardiomegaly ORPHA:79330
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Dilated cardiomyopathy, Biventricular hypert... OMIM:619573
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:1692
Genitopatellar Syndrome
Atrial septal defect ORPHA:85201
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Large placenta, Pulmonic stenosis, Tetralogy of ... OMIM:222470
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy OMIM:617303
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the... OMIM:146510
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:617088
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Pulmonary... OMIM:602535
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:261337
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect OMIM:235255
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:609192
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Umbilical hernia OMIM:616145
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse OMIM:616914
Proximal Spinal Muscular Atrophy
Atrial septal defect ORPHA:70
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis OMIM:618223
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect, Death in childhood OMIM:214100
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect OMIM:618162
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:607721
Fanconi Anemia, Complementation Group F
Atrial septal defect OMIM:603467
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Ventricular septal defect, Heart... OMIM:614866
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,... ORPHA:2162
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot OMIM:619869
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta ORPHA:268249
Jacobsen Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Coarctation of aorta, Hypoplastic left... ORPHA:2308
Keutel Syndrome
Ventricular septal defect, Miscarriage, Hypertension, Pulmonary artery hypoplasia, Pulmonic steno... OMIM:245150
Yunis-Varon Syndrome
Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale OMIM:216340
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:464738
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, At... OMIM:105650
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse ORPHA:284979
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect ORPHA:2637
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... ORPHA:567
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect OMIM:607323
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Situs inversus totalis OMIM:208540
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal... ORPHA:818
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Umbilical hernia, Aortic va... ORPHA:955
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... OMIM:280000
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... ORPHA:2369
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect ORPHA:2710
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse ORPHA:500095
Larsen Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm OMIM:150250
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... ORPHA:96121
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse ORPHA:730
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect OMIM:263520
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect ORPHA:1655
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect OMIM:300968
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Hajdu-Cheney Syndrome
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Death in adolescence OMIM:619229
Ramos-Arroyo Syndrome
Atrial septal defect ORPHA:1051
Lymphatic Malformation 6
Atrial septal defect OMIM:616843
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... ORPHA:352665
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse ORPHA:1900
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:147791
Goldberg-Shprintzen Syndrome
Ventricular septal defect OMIM:609460
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464311
Alg9-Cdg
Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil... ORPHA:79328
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect OMIM:618891
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Coffin-Siris Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology ORPHA:1465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect OMIM:614080
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Patent ductus arteriosus, Spina bifida occulta, Ventricular septal defect OMIM:300373
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Trichothiodystrophy
Cardiomyopathy, Umbilical hernia, Ventricular septal defect ORPHA:33364
Bent Bone Dysplasia Syndrome 2
Atrial septal defect OMIM:620076
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... OMIM:218040
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... ORPHA:363958
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology ORPHA:369837
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect OMIM:616546
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464306
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Oculoectodermal Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy OMIM:600268
Fanconi Anemia, Complementation Group C
Ventricular septal defect OMIM:227645
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... ORPHA:672
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
Juvenile Polyposis Of Infancy
Atrial septal defect, Abnormal heart morphology ORPHA:79076
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Diets-Jongmans Syndrome
Umbilical hernia, Ventricular septal defect OMIM:618846
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Spina bifida oc... ORPHA:904
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis OMIM:617260
Vici Syndrome
Atrial septal defect, Cardiomyopathy, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:242840
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Mitral valve prolapse OMIM:611962
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Death in infancy, Ventricular septal defect, Cardiomy... ORPHA:373
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:601776
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect ORPHA:522077
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect ORPHA:2751
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot ORPHA:2886
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Miscarriage, Large placenta, Pulmonary artery stenosis, Abnormal aorti... ORPHA:96334
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Hypertrophic cardiomyopathy, Hypoplastic right heart OMIM:617403
Helsmoortel-Van Der Aa Syndrome
Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology OMIM:615873
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Turnpenny-Fry Syndrome
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:618371
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta ORPHA:1199
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Renal artery stenosis, Atrial septal defect, Tet... OMIM:118450
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Mitral valve prolapse ORPHA:369950
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Hyp... OMIM:194050
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:536467
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve OMIM:271640
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Charge Syndrome
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... OMIM:214800
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Subvalvular aortic stenosis ORPHA:1052
Diamond-Blackfan Anemia
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta ORPHA:124
Oculodentodigital Dysplasia
Atrial septal defect OMIM:164200
Cerebrocostomandibular Syndrome
Atrial septal defect, Ventricular septal defect OMIM:117650
Smith-Lemli-Opitz Syndrome
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hype... OMIM:270400
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect OMIM:619418
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Zttk Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Aortic regurgitation OMIM:617140
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Umbilical hernia, T... OMIM:188400
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus ORPHA:2538
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Marfan Syndrome
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification OMIM:154700
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Loeys-Dietz Syndrome 2
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:610168
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... OMIM:616268
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect ORPHA:459070
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Fryns Syndrome
Atrial septal defect, Ventricular septal defect OMIM:229850
Mucopolysaccharidosis, Type Vi
Cardiomyopathy, Mitral stenosis OMIM:253200
Cornelia De Lange Syndrome 1
Ventricular septal defect OMIM:122470
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Orofaciodigital Syndrome Xiv
Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... OMIM:235730
Meester-Loeys Syndrome
Mitral valve prolapse OMIM:300989
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis OMIM:250220
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... OMIM:612474
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Marfan Syndrome
Mitral valve calcification, Mitral valve prolapse ORPHA:558
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve... OMIM:312870
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Atrial ... OMIM:613795
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Coffin-Siris Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Atrial septal defect, U... OMIM:135900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aorta hypoplasia, Muscu... OMIM:619503
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect OMIM:300896
Poland Syndrome
Atrial septal defect, Dextrocardia ORPHA:2911
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse ORPHA:666
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Atypical Werner Syndrome
Aortic valve calcification, Aortic valve stenosis, Mitral valve prolapse ORPHA:79474
Peters-Plus Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Umb... OMIM:261540
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Aortic valve calcification,... ORPHA:740
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Restrictive Dermopathy
Atrial septal defect, Dextrocardia, Transposition of the great arteries ORPHA:1662
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Frontal encephalocele, Stillbirth, Atrial se... OMIM:268300
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Mitral valve prolapse ORPHA:287
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect OMIM:620330
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... OMIM:164210
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Stickler Syndrome
Mitral valve prolapse ORPHA:828
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect OMIM:606170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Ventricular septal defect OMIM:619522
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Ulnar-Mammary Syndrome
Ventricular septal defect OMIM:181450
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Townes-Brocks Syndrome
Atrial septal defect, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Te... ORPHA:857
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic val... OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse OMIM:130050
Johanson-Blizzard Syndrome
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:243800
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccn1.

No publications found that use IMPC mice or data for Ccn1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ccn1tm428833(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ccn1tm214350(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Ccn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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