Global Variome shared LOVD

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Phenotype #0000330092 Individual ID 00440196 Associated disease GD Diagnosis/Initial Gaucher disease Diagnosis/Definite GD3 Phenotype details see paper; ..., 10y-visceral involvement, seizures and/or mental retardation Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-30 15:19:58 +01:00 (CET) Date last edited N/A

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