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Summary Literature (0)
DOID:0112226 - Bosch-Boonstra-Schaaf optic atrophy syndrome

Disease Ontology 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.

Synonyms: BBSOAS, optic atrophy-intellectual disability syndrome

Xenbase Genes : nr2f1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)