Global Variome shared LOVD

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

Phenotype #0000130096 Individual ID 00164000 Associated disease AHC Diagnosis/Initial AHC Diagnosis/Definite AHC Phenotype details Epileptic seizure, automatic dysfunction, dysarthria, respiritary disturbance, ataxia, and slight developmental delay Inheritance Familial, autosomal dominant Age/Examination 06y (6 years) Age/Diagnosis 06y Age/Onset 00y02m Phenotype/Onset Epileptic seizure Protein - Owner name Xiaoxu Yang Database submission license No license selected Created by Xiaoxu Yang Date created 2018-07-02 00:45:11 +02:00 (CEST) Date last edited 2018-07-02 14:00:56 +02:00 (CEST)

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