Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614198 http://purl.bioontology.org/ontology/OMIM/614198
Preferred Name	MYASTHENIC SYNDROME, CONGENITAL, 16
Synonyms	MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE CMS16
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE CMS16
prefLabel	MYASTHENIC SYNDROME, CONGENITAL, 16
Gene Symbol	SCN4A HOKPP2 NAC1A CMYO22A CMS16 HYPP See more See less
Scope Statement	Caused by mutation in the sodium channel, voltage-gated, type IV, alpha subunit gene (SCN4A, 603967.0018) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU041614 http://purl.bioontology.org/ontology/OMIM/MTHU001515 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU050676 http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU042433 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU050675 http://purl.bioontology.org/ontology/OMIM/MTHU003604 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU050678 http://purl.bioontology.org/ontology/OMIM/MTHU007093 See more See less
tui	T047
Gene Locus	17q23.1-q25.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614198
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3280112
OMIM Entry Type	3
OMIM MimType Value	pound

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