Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620369
http://purl.bioontology.org/ontology/OMIM/620369
Preferred Name

CONGENITAL MYOPATHY 22B, SEVERE FETAL
Synonyms
CMYO22B
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CMYO22B
prefLabel
CONGENITAL MYOPATHY 22B, SEVERE FETAL
Gene Symbol
SCN4A
HOKPP2
NAC1A
CMYO22A
CMS16
HYPP
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Scope Statement
Caused by mutation in the sodium voltage-gated channel, alpha subunit 4 gene (SCN4A, 603967.0036) [MOLECULAR BASIS]
Two unrelated families have been reported (last curated May 2023) [MISCELLANEOUS]
Onset in utero [MISCELLANEOUS]
Death in utero or soon after birth [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU077180
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU039122
http://purl.bioontology.org/ontology/OMIM/MTHU001017
http://purl.bioontology.org/ontology/OMIM/MTHU077179
http://purl.bioontology.org/ontology/OMIM/MTHU000028
http://purl.bioontology.org/ontology/OMIM/MTHU025052
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU044053
http://purl.bioontology.org/ontology/OMIM/MTHU002677
http://purl.bioontology.org/ontology/OMIM/MTHU020314
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU004127
http://purl.bioontology.org/ontology/OMIM/MTHU002592
http://purl.bioontology.org/ontology/OMIM/MTHU002599
http://purl.bioontology.org/ontology/OMIM/MTHU002680
http://purl.bioontology.org/ontology/OMIM/MTHU004564
http://purl.bioontology.org/ontology/OMIM/MTHU009541
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU004805
http://purl.bioontology.org/ontology/OMIM/MTHU051295
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU004046
http://purl.bioontology.org/ontology/OMIM/MTHU031116
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU001780
http://purl.bioontology.org/ontology/OMIM/MTHU005373
http://purl.bioontology.org/ontology/OMIM/MTHU023156
http://purl.bioontology.org/ontology/OMIM/MTHU007289
http://purl.bioontology.org/ontology/OMIM/MTHU037219
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tui
T047
Gene Locus
17q23.1-q25.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620369
Semantic type UMLS property
Has inheritance type
cui
C5830501
OMIM Entry Type
3
OMIM MimType Value
pound
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