Phenotype #0000238688

Global Variome shared LOVD

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

Individual ID	00314931
Associated disease	?
Diagnosis/Initial	encephalopathy
Diagnosis/Definite	-
Phenotype details	see paper; progressive encephalopathy and muscle involvement, ...
Inheritance	Familial, autosomal recessive
Age/Examination	02y03m (2 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-21 10:27:08 +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.