congenital heart defects, multiple types, 2
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.
MONDO:0000119
congenital heart defects, multiple types
is_a
MONDO:0019512
congenital heart malformation
is_a
MONDO:0100547
cardiogenetic disease
is_a
CHTD2
related
TAB2 congenital heart malformation
exact
TAB2-related syndromic congenital heart disease
exact
congenital heart defects, multiple types, 2
exact
congenital heart malformation caused by mutation in TAB2
exact