Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614915 http://purl.bioontology.org/ontology/OMIM/614915
Preferred Name	LETHAL CONGENITAL CONTRACTURE SYNDROME 4
Synonyms	LCCS4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LCCS4
prefLabel	LETHAL CONGENITAL CONTRACTURE SYNDROME 4
Gene Symbol	MYBPC1 CMYO16 LCCS4
Scope Statement	Clinical details not provided beyond a statement that the phenotype is 'identical to that of LCCS3' (611369) [MISCELLANEOUS] Death due to respiratory insufficiency within minutes to hours after birth [MISCELLANEOUS] Caused by mutation in the slow-type myosin-binding protein-C gene (MYBPC1, 160794.0003) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU046296 http://purl.bioontology.org/ontology/OMIM/MTHU046626 http://purl.bioontology.org/ontology/OMIM/MTHU046625 http://purl.bioontology.org/ontology/OMIM/MTHU046297
tui	T047
Gene Locus	12q23.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614915
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554046
OMIM Entry Type	3
OMIM MimType Value	pound

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