Phenotype #0000027477

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00034081
Associated disease	MLD
Phenotype details	late infantile; spastic paraparesis, dysarthria, 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	gait disturbances
Protein	26.4 nmol/mg/h
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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