Global Variome shared LOVD

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

Phenotype #0000027473 Individual ID 00034077 Associated disease MLD Phenotype details late infantile; spastic tetraparesis, mental deterioration, slowed motor and sensory NCVs, symmetrical deep WM abnormalities Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset 01y05m Age/Diagnosis - Phenotype/Onset gait disturbances, strabismus Protein 47 nmol/mg/h (normal= 520+/-149) 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 2019-07-27 12:32:50 +02:00 (CEST)

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