Harel-Yoon syndrome
Definition:
Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that HAYOS is caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism.
Biomedical Dictionary
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