urofacial syndrome type 1
MONDO:0009368Mondo
Findings
No curated finding names urofacial syndrome type 1 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.
- HPSE2HGNC:18374
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of