Global Variome shared LOVD

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

Phenotype #0000341658 Individual ID 00453014 Associated disease GCE Inheritance Familial, autosomal recessive Diagnosis/Initial epilepsy Age/Examination 00y03m (3 months) Diagnosis/Definite phenotype individual after molecular testing Age/Diagnosis 05y Age/Onset 00y03m Phenotype/Onset Seizures, ataxic gait and developmental delay Phenotype details - Protein - Owner name Zhizi Zhou Database submission license No license selected Created by Zhizi Zhou Date created 2024-08-13 05:18:37 +02:00 (CEST) Date last edited 2024-08-16 09:39:23 +02:00 (CEST)

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