Disease #00737 (CMS16 (myasthenic syndrome, congenital, type 16, acetazolamide-responsive), OMIM:614198)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	CMS16
Name	myasthenic syndrome, congenital, type 16, acetazolamide-responsive
OMIM ID	614198
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SCN4A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-11-11 21:48:30 +01:00 (CET)

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