Global Variome shared LOVD

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

Phenotype #0000187506 Individual ID 00248536 Associated disease MLD Phenotype details juvenile, MRI brain pathological; cognitive/behavioral regression as first symptom Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset 05y06m Age/Diagnosis - Phenotype/Onset - Protein 2 nmol/mg/h (normal= 12-27) Owner name Martina Cesani Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-26 09:40:40 +02:00 (CEST) Date last edited 2019-07-27 12:32:50 +02:00 (CEST)

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