arthrogryposis, distal, type 1B
MONDO:0013698Mondo
Findings
No curated finding names arthrogryposis, distal, type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of