Global Variome shared LOVD

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Phenotype #0000129988 Individual ID 00163022 Associated disease AHC1 Phenotype details Abnormal eye movement, quadriplegia, Dystonia, Dysphagia, Dysarthria, and slight developmental delay. Diagnosis/Initial AHC Inheritance Familial, autosomal dominant Diagnosis/Definite AHC Age/Examination 07y (7 years) Age/Diagnosis 07y 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 19:50:07 +02:00 (CEST) Date last edited 2018-06-26 09:08:36 +02:00 (CEST)

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