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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