Atrial Septal Defect 4

Alternative Names

  • ASD4

Associated Genes

T-Box 20
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

OMIM Number

611363

Gene Map Locus

7p14.2

Description

ASD4 is a rare type of Atrial Septal Defect, caused by mutations in the TBX20 gene. Clinically, the condition is identical to other ASDs. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
611363.1.1LebanonMaleYesNo Secundum atrial septal defectNM_001166220.1:c.363C>GHomozygousAutosomal, RecessivePosch et al, 2010
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