Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615368
http://purl.bioontology.org/ontology/OMIM/615368
Preferred Name

LETHAL CONGENITAL CONTRACTURE SYNDROME 5
Synonyms
MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE
LCCS5
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE
LCCS5
prefLabel
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
Gene Symbol
CMT2M
CMTDIB
LCCS5
DNM2
CMTDI1
Scope Statement
One family has been reported (last curated August 2013) [MISCELLANEOUS]
Onset in utero [MISCELLANEOUS]
Death in infancy [MISCELLANEOUS]
Caused by mutation in the dynamin-2 gene (DNM2, 602378.0013) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU037127
http://purl.bioontology.org/ontology/OMIM/MTHU000329
http://purl.bioontology.org/ontology/OMIM/MTHU000660
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU044053
http://purl.bioontology.org/ontology/OMIM/MTHU002278
http://purl.bioontology.org/ontology/OMIM/MTHU000565
http://purl.bioontology.org/ontology/OMIM/MTHU020670
http://purl.bioontology.org/ontology/OMIM/MTHU024478
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU044056
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU044054
http://purl.bioontology.org/ontology/OMIM/MTHU005900
http://purl.bioontology.org/ontology/OMIM/MTHU044055
http://purl.bioontology.org/ontology/OMIM/MTHU044057
http://purl.bioontology.org/ontology/OMIM/MTHU000730
See more
See less
tui
T047
Gene Locus
19p13.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615368
Semantic type UMLS property
Has inheritance type
cui
C4706410
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display