Global Variome shared LOVD

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

Phenotype #0000187607 Individual ID 00248639 Associated disease MLD Phenotype details late Infantile Diagnosis/Initial metachromatic leukodystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite MLD Age/Examination - Age/Onset 01y01m Age/Diagnosis - Phenotype/Onset - Protein 0.8 nmol/mg/h (normal= 65.8+/-13.7) 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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