Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

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.