lethal congenital contracture syndrome 4
MONDO:0013965Mondo
Findings
No curated finding names lethal congenital contracture syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013965), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYBPC1HGNC:7549
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: lethal congenital contracture syndrome 4
- Also called
- lethal congenital contracture syndrome caused by mutation in MYBPC1lethal congenital contracture syndrome type 4MYBPC1 lethal congenital contracture syndrome