GTR Home > Conditions/Phenotypes > Bosch-Boonstra-Schaaf optic atrophy syndrome

Summary

A rare hereditary syndromic intellectual disability with characteristics of 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, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15. [from SNOMEDCT_US]

Genes See tests for all associated and related genes

  • Also known as: BBOAS, BBSOAS, COUP-TFI, COUPTF1, EAR-3, EAR3, ERBAL3, SVP44, TCFCOUP1, TFCOUP1, NR2F1
    Summary: nuclear receptor subfamily 2 group F member 1

Clinical features

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