Cerebellar hypoplasia, epilepsy, and global developmental delay
Definition:
Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual disability, language delay, cerebellar atrophy, and seizures. It has been reported that loss-of-function mutations in the OXR1 gene are associated with this disease.
References:
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[1]. Julia Wang, et al. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. [Content Brief]
[2]. Peter L Oliver, et al. Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. PLoS Genet. 2011 Oct;7(10):e1002338. [Content Brief]
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