Disease - Bosch-Boonstra-Schaaf optic atrophy syndrome
- DefinitionAn autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.
- AcronymBBSOAS
- Cross references
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Browse 1 entry- COUP transcription factor 1 · Gene: NR2F1 (EAR3, ERBAL3, TFCOUP1) · Homo sapiens (Human) · 423 amino acids · Evidence at protein level · Annotation score: 5/5