Phenotype #0000041530

Global Variome shared LOVD

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

Individual ID	00054866
Associated disease	SPAX4
Phenotype details	ataxia, myoclonus, dystonia, epilepsy, high CK
Diagnosis/Initial	cerebellar ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EPM6
Age/Examination	-
Age/Diagnosis	-
Age/Onset	02y
Phenotype/Onset	-
Protein	-
Owner name	Erik-Jan Kamsteeg
Database submission license	No license selected
Created by	Erik-Jan Kamsteeg
Date created	2015-11-30 15:29:51 +01:00 (CET)
Date last edited	2022-11-17 09:11:03 +01:00 (CET)

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