Phenotype #0000187610

Global Variome shared LOVD

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

	Curator: Johan den Dunnen

Individual ID	00248642
Associated disease	MLD
Phenotype details	adult
Diagnosis/Initial	metachromatic leukodystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MLD
Age/Examination	-
Age/Onset	-
Age/Diagnosis	-
Phenotype/Onset	-
Protein	3.2 nmol/mg/h (normal= 65.8+/-13.7)
Owner name	Alessandra Biffi
Database submission license	No license selected
Created by	Alessandra Biffi
Date created	2017-05-27 13:39:12 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.