Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000207402 Individual ID 00266658 Associated disease epilepsy Phenotype details Early severe epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks Diagnosis/Initial epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite genetic epileptic encephalopathy Age/Examination 00y-08y Age/Diagnosis - Age/Onset 00y00m02d Phenotype/Onset clusters of tonic spasms Protein - Owner name Maurizio Elia Database submission license No license selected Created by Maurizio Elia Date created 2019-12-02 23:26:21 +01:00 (CET) Date last edited 2019-12-04 10:54:04 +01:00 (CET)

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