ACTB-associated syndromic thrombocytopenia

MONDO:0100433

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

37 clinical trials for this condition and its sub-types.

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