Global Variome shared LOVD

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Phenotype #0000070608 Individual ID 00092272 Associated disease SCAX1 Phenotype details mild IDD, autism, epilepsy, ataxia, improvement of neurologic symptoms on oral serine supplements; low CSF and plasma serine Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-12-16 19:09:22 +01:00 (CET) Date last edited N/A

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