Global Variome shared LOVD

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Phenotype #0000355303 Individual ID 00470158 Associated disease MTDPS Diagnosis/Initial Alpert syndrome Diagnosis/Definite MTDPS4A Phenotype details see paper; ..., epilepsy; hepatopathy; no movement disorder Inheritance Familial, autosomal recessive Age/Examination 2y3m (2 years, 3 months) 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 2025-11-27 18:16:07 +01:00 (CET) Date last edited N/A

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