Global Variome shared LOVD

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Phenotype #0000180454 Individual ID 00240389 Associated disease ENC Phenotype details developmental delay; developmental regression; febrile-induced regression 21m; epilepsy; progressive microcephaly; no hypotonia; appendicular spasticity; ataxia; no myoclonic jerks; cerebellar atrophy; basal ganglia involvement; hyponatremia upon acute presentation Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 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 2019-06-19 15:18:02 +02:00 (CEST) Date last edited N/A

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