ACTB-associated syndromic thrombocytopenia
ACTB-associated syndromic thrombocytopenia
Definition
A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
Also known as ACTB-AST, thrombocytopenia 8, with dysmorphic features and developmental delay — per MONDO