Phenotype #0000017338

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00019542
Associated disease	MLD
Phenotype details	late infantile, MRI brain pathological; cognitive/behavioral regression as first symptom; peripheral neuropathy (HP:0009830)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	02y06m
Age/Diagnosis	-
Phenotype/Onset	-
Protein	18 nmol/mg/h (normal= 80-200)
Owner name	Martina Cesani
Database submission license	No license selected
Created by	Martina Cesani
Date created	2014-07-31 14:53:35 +02:00 (CEST)
Date last edited	2019-07-27 12:41:33 +02:00 (CEST)

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