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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder plus optic atrophy

Neurodevelopmental disorder plus optic atrophy

Summary

Neurodevelopmental disorder plus optic atrophy (NEDOA) is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia (Brugger et al., 2024). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE115, Dot3, EAP30, NEDOA, VPS22, SNF8
    Summary: SNF8 subunit of ESCRT-II

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