Global Variome shared LOVD

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Phenotype #0000355354 Individual ID 00470209 Associated disease ? Diagnosis/Initial Alpers syndrome Diagnosis/Definite - Phenotype details see paper; ..., myoclonic seizures; no generalized tonic-clonic seizures; no focal motor seizures; epilepsia partialis continua/status; developmental delay or regression; ataxia; no visual disturbance; no motor paresis; no hypotonia; no tremor Inheritance Familial, autosomal recessive Age/Examination 6m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-28 11:03:05 +01:00 (CET) Date last edited N/A

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