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leukoencephalopathy with vanishing white matter


Definition: rare autosomal recessive disorder [MIM 603896] marked by extensive cystic degeneration of white matter, due to mutations in the genes for the subunits of eukaryotic initiation factor 2B, a heteropentameric guanine nucleotide exchange factor that regulates cell translation.

Synonym(s): childhood ataxia with diffuse central nervous system hypomyelination

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.