Bosch-Boonstra-Schaaf optic atrophy syndrome (DOID:0112226)
Alliance: disease page
Synonyms: BBSOAS; optic atrophy-intellectual disability syndrome
Alt IDs: OMIM:615722, ORDO:401777
Definition: A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.