Martinez-Frias syndrome
MONDO:0011042Mondo
Findings
No curated finding names Martinez-Frias syndrome 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.
- RFX6HGNC:21478
- Definitive · G2P · Autosomal recessive · 2015
Where it sits
- A kind of