Phenotype #0000027481

Global Variome shared LOVD

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

Individual ID	00034085
Associated disease	MLD
Phenotype details	late infantile
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	01y03m
Age/Diagnosis	-
Phenotype/Onset	gait disturbances
Protein	5 nmol/mg/h (normal= 65.8+/-13.7)
Owner name	Alessandra Biffi
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)

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