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Harel-Yoon syndrome

Synonyms
Optic atrophy-peripheral neuropathy-developmental delay syndrome

Summary

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HAYOS, PHRINL, ATAD3A
    Summary: ATPase family AAA domain containing 3A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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