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

Bosch-Boonstra-Schaaf optic atrophy syndrome

Summary

Bosch-Boonstra-Schaaf optic atrophy syndrome is an autosomal dominant disorder characterized by delayed development, moderate intellectual disability, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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