Global Variome shared LOVD

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Phenotype #0000325368 Individual ID 00435163 Associated disease GD2 Phenotype details died at 8.5m; splenomegaly, hepatomegaly, thrombocytopenia, anemia, seizures, head retroflection, hyperreflexia Diagnosis/Initial Gaucher disease Inheritance Unknown Diagnosis/Definite GD2 Age/Examination 00y08m15d (8 months, 15 days) Age/Diagnosis - Age/Onset 00y01m Phenotype/Onset - Protein - Owner name Jimena Urbano Database submission license Creative Commons Attribution 4.0 International Created by Jimena Urbano Date created 2023-06-01 16:36:14 +02:00 (CEST) Date last edited 2023-06-13 22:38:20 +02:00 (CEST)

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