has material basis in germline mutation in ACTB syndromic constitutional thrombocytopenia ACTB-associated syndromic thrombocytopenia https://github.com/monarch-initiative/mondo/issues/4019 https://github.com/monarch-initiative/mondo/issues/6597 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/thrombocytopenia_8_with_dysmorphic_features_and_developmental_delay Orphanet:674653 ACTB-AST thrombocytopenia 8, with dysmorphic features and developmental delay MONDO:0100433 OMIM:620475 ACTB-related 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. GARD:0026211 MEDGEN:1851006 UMLS:C5882677