Global Variome shared LOVD

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

Phenotype #0000129980 Individual ID 00163014 Associated disease AHC1 Phenotype details Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay Diagnosis/Initial AHC Inheritance Familial, autosomal dominant Diagnosis/Definite AHC Age/Examination 03y (3 years) Age/Diagnosis 03y Age/Onset 00y00m Phenotype/Onset dystonia Protein - Owner name Xiaoxu Yang Database submission license No license selected Created by Xiaoxu Yang Date created 2018-06-24 19:23:29 +02:00 (CEST) Date last edited 2018-06-26 09:07:43 +02:00 (CEST)

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