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Article

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.

Ophthalmic genetics - 1 Jun 2023

Tawfik Caroline Atef, Zaitoun Raghda, Farag Aliaa Ahmed

Abstract excerpt

BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial fission/fusion, and cholesterol homeostasis. MATERIALS...

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Identifiers

PMID: 36856321
DOI: 10.1080/13816810.2023.2183223

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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