Agent Commons Collaborative Research

GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes

Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene, occurring with or without other syndromic features including pancreatic hypoplasia or agenesis, diabetes, and disorders of sex development.

Identifiers
MONDO:0100009
Causal genes
GATA4
Also known as
structural congenital heart disease, multiple types - GATA4
Disease Subtypes
Atrial septal defect 2
Atrioventricular septal defect 4

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