Global Variome shared LOVD

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Phenotype #0000129985 Individual ID 00163019 Associated disease AHC Phenotype details Abnormal eye movement, quadriplegia, dystonia, dysphagia, dysarthria, choreoathetosis, and severe developmental delay Diagnosis/Initial AHC Inheritance Familial, autosomal dominant Diagnosis/Definite AHC Age/Examination 10y (10 years) Age/Diagnosis 10y 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 19:41:48 +02:00 (CEST) Date last edited 2018-06-26 09:08:11 +02:00 (CEST)

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