Global Variome shared LOVD

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

Phenotype #0000130099 Individual ID 00164003 Associated disease AHC Diagnosis/Initial AHC Diagnosis/Definite AHC Phenotype details Hemiplegia start at 8m, 2 times/m, dystonia, quadriplegia, abnormal eye movement, dysarthria, ataxia, choreography, slight developmental delay (language delay) Inheritance Familial, autosomal dominant Age/Examination 02y (2 years) Age/Diagnosis 02y Age/Onset 00y02m Phenotype/Onset Dystonia Protein - Owner name Xiaoxu Yang Database submission license No license selected Created by Xiaoxu Yang Date created 2018-07-02 01:00:26 +02:00 (CEST) Date last edited 2018-07-02 14:02:22 +02:00 (CEST)

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