| Metadata | |
|---|---|
| ID | DOID:0112226 |
| Name | Bosch-Boonstra-Schaaf optic atrophy 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BBSOAS [EXACT] optic atrophy-intellectual disability syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |