Global Variome shared LOVD

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

Phenotype #0000027548 Individual ID 00034152 Associated disease MLD Phenotype details adult, MRI brain pathological, cognitive decline, no motor impairment Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset 33y Age/Diagnosis - Phenotype/Onset - Protein 15 nmol/mg/h (normal= 109-217) Owner name Alessandra Biffi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-03-13 17:42:21 +01:00 (CET) Date last edited 2019-07-27 12:32:50 +02:00 (CEST)

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