Global Variome shared LOVD

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Phenotype #0000027479 Individual ID 00034083 Associated disease MLD Phenotype details spastic paraparesis, mental deterioration, slowed motor and sensory NCVs, symmetrical deep WM abnormalities Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset 01y09m Age/Diagnosis - Phenotype/Onset gait disturbances Protein - Owner name SIB - Livia Famiglietti Database submission license No license selected Created by SIB - Livia Famiglietti Date created 2012-04-26 15:10:15 +02:00 (CEST) Date last edited 2016-03-25 18:59:51 +01:00 (CET)

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