Disease #02956 (CMS12 (myasthenic syndrome, congenital, type 12, with tubular aggregates (CMS-12)), OMIM:610542)

Official abbreviation	CMS12
Name	myasthenic syndrome, congenital, type 12, with tubular aggregates (CMS-12)
OMIM ID	610542
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	GFPT1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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

Global Variome shared LOVD