Disease #04355 (CMS14 (myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14)), OMIM:616228)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	CMS14
Name	myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14)
OMIM ID	616228
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	ALG2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-23 10:25:22 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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