Agent Commons Collaborative Research
Congenital heart defects, multiple types, 2
rareAny 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.
- Identifiers
- MONDO:0014000 OMIM:614980Orphanet:664401
- Causal genes
- TAB2
- Part of
- Cardiogenetic diseaseCongenital heart defects, multiple typesCongenital heart malformationPolyvalvular heart disease syndrome
- Also known as
- cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation · CHTD2 · congenital heart malformation caused by mutation in TAB2 · TAB2 congenital heart malformation · TAB2-related syndromic congenital heart disease
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