Bosch-Boonstra-Schaaf optic atrophy syndrome

Term ID

DOID:0112226

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. https://pubmed.ncbi.nlm.nih.gov/24462372/

References

• OMIM:615722
• ORDO:401777

Ontology

Human Disease   ( DOID:0112226 )