Phenotype #0000017340

Global Variome shared LOVD

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

Individual ID	00019544
Associated disease	MLD
Phenotype details	Juvenile; no peripheral neuropathy (HP:0009830)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	06y
Age/Diagnosis	-
Phenotype/Onset	-
Protein	4.5%; 6%
Owner name	Martina Cesani
Database submission license	No license selected
Created by	Martina Cesani
Date created	2014-07-31 15:21:02 +02:00 (CEST)
Date last edited	2019-07-27 12:41:33 +02:00 (CEST)

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