Global Variome shared LOVD

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Phenotype #0000329996 Individual ID 00440098 Associated disease GD2 Phenotype details see paper; ..., 37w-birth Caesarean section due to fetal distress; 9h-deceased; severe asphyxia, respiration did not become voluntary; autopsy hepatomegaly, no activity of glucocerebrosidase Diagnosis/Initial severe Gaucher disease type II Inheritance Familial, autosomal recessive Diagnosis/Definite GD2 Age/Examination 00y00m01d (1 day) 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 2023-10-27 18:32:41 +02:00 (CEST) Date last edited N/A

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