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FAQ
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BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is a rare neurological disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are vision impairment caused by optic atrophy, developmental delay, and intellectual disability. There are currently a few hundred known cases of BBSOAS worldwide with diagnoses rapidly increasing every month.
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