Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0112226 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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