Synonyms: BBSOAS | Bosch-Boonstra-Schaaf optic atrophy syndrome
Optic atrophy-intellectual disability syndrome is a rare hereditary syndromic intellectual disability characterized by developmental delay intellectual disability and significant visual impairment due to optic nerve atrophy optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia oromotor dysfunction seizures autism spectrum disorder and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2026
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Optic atrophy-intellectual disability syndrome?
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Advocacy Organizations
NR2F1 Foundation
Our vision is that every single family and individual living with rare NR2F1 variants around the world, will live a full and empowered life. Our mission is to empower families and individuals living with rare NR2F1 variants through education, advocacy and research.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
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