Global Variome shared LOVD

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

Phenotype #0000254878 Individual ID 00359605 Associated disease NPA Phenotype details Lysosomal storage disease, developmental delay, conspicuous liver biopsy. Liver biopsy, cMRI abnormal (myelination disorder, dysplasia, grandfather with liver disease). Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 00y02m (2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-03-30 17:49:25 +02:00 (CEST) Date last edited 2021-04-01 14:41:51 +02:00 (CEST)

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