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Article

Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

American journal of medical genetics. Part A - 1 Oct 2024

Abdul-Raheem Jareatha, Nikkola Elina, Chen Zhenbin, Rohena Luis

Abstract excerpt

Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay. It primarily results from mutations in the ATAD3A gene, pivotal for mitochondrial function. This report presents a 5-year-old girl with HAYOS harboring a de novo heterozygous variant c.1064G>A; (p.G355D) in ATAD3A....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38877820
DOI: 10.1002/ajmg.a.63647

Genes

ATAD3A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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