ACTB-associated syndromic thrombocytopenia

A syndromic constitutional thrombocytopenia caused by a variation in the ACTB gene, associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets. Unlike many inherited platelet disorders, spontaneous bleeding is often limited, and the phenotype reflects a combined disturbance of platelet formation and neurodevelopmental and craniofacial patterning.