" /> Developmental and epileptic encephalopathy 83 - CISMeF





Preferred Label : Developmental and epileptic encephalopathy 83;

Symbol : DEE83;

CISMeF acronym : EIEE83;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Barakat-perenthaler syndrome; EIEE83; Epileptic encephalopathy, early infantile, 83;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the uridyl diphosphate glucose pyrophosphorylase 2 gene (UGP2, 191760.0001);

Prefixed ID : #618744;

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24/07/2025


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