# lethal congenital contracture syndrome 4

> lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23

**Wikidata**: [Q27674751](https://www.wikidata.org/wiki/Q27674751)  
**Source**: https://4ort.xyz/entity/lethal-congenital-contracture-syndrome-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196091/Orphanet_137783)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)