Yoon-Bellen neurodevelopmental syndrome

Definition:

Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism.

References:

[1]. Zheng Yie Yap, et al. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. [Content Brief]

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