Global Variome shared LOVD

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Phenotype #0000132931 Individual ID 00168065 Associated disease epilepsy Phenotype details see paper; ..., early-onset refractory epilepsy, psychomotor delay, failure to thrive, blindness, deafness Diagnosis/Initial early-onset refractory epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite SPDRS 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 2018-07-18 22:28:46 +02:00 (CEST) Date last edited N/A

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