Global Variome shared LOVD

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

Phenotype #0000257293 Individual ID 00361899 Associated disease GM1G1 Phenotype details neuroregression, cherry red spots, hepatosplenomegaly Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anju Shukla Database submission license No license selected Created by Anju Shukla Date created 2021-04-12 06:14:51 +02:00 (CEST) Date last edited 2021-04-12 14:19:02 +02:00 (CEST)

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