Global Variome shared LOVD

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Phenotype #0000201922 Individual ID 00264083 Associated disease deafness Phenotype details see paper; …, pyridoxal phosphate-responsive seizures, cerebral folate deficiency, congenital deafness, labyrinthine aplasia, microtia, microdontia Diagnosis/Initial deafness Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) 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 2019-09-09 21:48:27 +02:00 (CEST) Date last edited 2019-09-09 21:56:41 +02:00 (CEST)

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