Phenotype #0000027474

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00034078
Associated disease	MLD
Phenotype details	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	01y02m
Age/Diagnosis	-
Phenotype/Onset	psychomotor regression
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 18:43:32 +01:00 (CET)

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