Global Variome shared LOVD

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Phenotype #0000187494 Individual ID 00248525 Associated disease MLD Phenotype details - Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Onset - Age/Diagnosis - Phenotype/Onset - Protein 2.1 nmol/mg/h Owner name Alessandra Biffi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-24 19:01:17 +02:00 (CEST) Date last edited 2019-07-27 12:32:50 +02:00 (CEST)

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