Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000325388 Individual ID 00435165 Associated disease GD1 Phenotype details All splenomegaly, 6 patients also hepatomegaly, 7 patients with pancytopenia, 4with bone disease, one (I.39) asymptomatic at present age of 05y Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite GD1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jimena Urbano Database submission license Creative Commons Attribution 4.0 International Created by Jimena Urbano Date created 2023-06-05 15:53:17 +02:00 (CEST) Date last edited 2023-10-27 14:20:57 +02:00 (CEST)

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