Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
MONDO:0020667Mondo
Findings
No curated finding names Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 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.
- FGFR2HGNC:3689
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of