Phenotype #0000141913

Global Variome shared LOVD

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

	Curator: Global Variome, with Curator vacancy

Individual ID	00179426
Associated disease	EE
Phenotype details	see paper; …
Diagnosis/Initial	severe infantile-onset encephalopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EIEE-44
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-08-21 21:59:57 +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.