Term Name: | Bosch-Boonstra-Schaaf optic atrophy syndrome |
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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 ) |