Congenital heart defects, multiple types, 2

Definition

Any congenital heart disease characterized by variable features including polyvalvular heart disease, growth failure, joint hypermobility, hypotonia, and hearing loss due to a variation in the TAB2 gene.

Also known as congenital heart defects, multiple types, 2, congenital heart malformation caused by mutation in TAB2, TAB2 congenital heart malformation, TAB2-related syndromic congenital heart disease — per MONDO

Also identified as

• OMIM 614980 per MONDO
• UMLS C3554279 per MONDO