" /> Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome - CISMeF





Preferred Label : Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome;

Symbol : LEUDEN;

CISMeF acronym : LEUDEN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leuden syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 2 gene (EIF2AK2, 176871.0001);

Prefixed ID : #618877;

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31/07/2025


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