Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, also known as bbsoas, is related to septooptic dysplasia and coloboma of macula. An important gene associated with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome is NR2F1 (Nuclear Receptor Subfamily 2 Group F Member 1), and among its related pathways/superpathways are Ectoderm differentiation and Oct4 in Mammalian ESC Pluripotency. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and seizure