Term Name: Bosch-Boonstra-Schaaf optic atrophy syndrome
Synonyms: BBSOAS, optic atrophy-intellectual disability syndrome
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.
Ontology: Human Disease [DOID:0112226]   ( DOID:0112226 )

Relationships
is a type of: autosomal dominant disease syndrome