Phenotype #0000124477

Global Variome shared LOVD

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

Individual ID	00152134
Associated disease	MEB
Phenotype details	-
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	severly reduced enzyme activity
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2006-09-23 12:04:46 +02:00 (CEST)
Date last edited	2018-02-03 16:13:13 +01:00 (CET)

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