has material basis in germline mutation in RAP1B inherited bleeding disorder, platelet-type inherited thrombocytopenia thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies MONDO:0958000 MEDGEN:1846947 UMLS:C5882734 Any inherited thrombocytopenia caused by a variation in the RAP1B gene, which encodes a small GTPase that regulates integrin activation and RAS/MAPK signaling, characterized by chronic thrombocytopenia (often with leukopenia or lymphopenia), dysmorphic facial features, poor growth with microcephaly, hypotonia, mild intellectual or learning disability, and variable congenital anomalies of the heart, brain, skeletal, genitourinary, or endocrine systems. RAP1B-related thrombocytopenia with multiple congenital anomalies and dysmorphic facies GARD:0026906 OMIM:620654