Preferred Label : Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome;
NCIt synonyms : Leuden Syndrome;
NCIt definition : An autosomal dominant syndromic condition caused by mutation(s) in the EIF2AK2 gene
encoding interferon-induced, double-stranded RNA-activated protein kinase. It is characterized
by hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria,
and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs,
and tremor.;
Origin ID : C214870;
concept_is_in_subset
- disease_mapped_to_gene
