Bone Marrow Failure Syndrome 2 (BMFS2)

Bone Marrow Failure Syndrome 2, also known as pancytopenia-developmental delay syndrome, is related to microcephaly and learning disability. An important gene associated with Bone Marrow Failure Syndrome 2 is ERCC6L2 (ERCC Excision Repair 6 Like 2). Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and thrombocytopenia