Global Variome shared LOVD

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Phenotype #0000129977 Individual ID 00163011 Associated disease AHC1 Phenotype details Abnormal eye movement, Dystonia, quadriplegia, automatic dysfunction, dysphagia, dysarthria, ataxia, and developmental delay. Diagnosis/Initial AHC Inheritance Familial, autosomal dominant Diagnosis/Definite AHC Age/Examination 04y (4 years) Age/Diagnosis 04y Age/Onset 00y01m Phenotype/Onset Abnormal eye movement Protein - Owner name Xiaoxu Yang Database submission license No license selected Created by Xiaoxu Yang Date created 2018-06-24 19:14:16 +02:00 (CEST) Date last edited 2018-06-26 09:07:18 +02:00 (CEST)

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