Optic atrophy-intellectual disability syndrome

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Optic atrophy-intellectual disability syndrome

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 March 2024

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Clinical Trials

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