Global Variome shared LOVD

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

Phenotype #0000187540 Individual ID 00248572 Associated disease MLD Phenotype details juvenile, MRI brain pathological Diagnosis/Initial metachromatic leukodystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MLD Age/Examination - Age/Onset 10y Age/Diagnosis - Phenotype/Onset - Protein 0 nmol/mg/h (normal= 37.9) Owner name Alessandra Biffi Database submission license No license selected Created by Alessandra Biffi Date created 2017-05-27 13:39:12 +02:00 (CEST) Date last edited N/A

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