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

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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