Conditions / Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
info · Syndrome
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.
Signs and symptoms
- Strabismus
- Reduced visual acuity
- Intellectual disability
- Global developmental delay
- Cerebral visual impairment
- Optic disc pallor
- Optic atrophy
- Nystagmus
- Visual field defect
- Hypotonia
Also known as: BBSOAS; optic atrophy-intellectual disability syndrome