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:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.