ACTB-associated syndromic thrombocytopenia
A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
MONDO:0018795
syndromic constitutional thrombocytopenia
is_a
ACTB-AST
exact
thrombocytopenia 8, with dysmorphic features and developmental delay
exact