orofaciodigital syndrome 18
MONDO:0054770Mondo
Findings
No curated finding names orofaciodigital syndrome 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- IFT57HGNC:17367
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: orofaciodigital syndrome 18
- Also called
- OFD18Ofds 18oral-facial-digital syndrome type 18oral-facial-digital syndrome with short stature and brachymesophalangyorofaciodigital syndrome type 18