orofaciodigital syndrome IX
Findings
No curated finding names orofaciodigital syndrome IX yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).
Definition from the Mondo Disease Ontology (MONDO:0009795), read 2026-09-29. CC BY 4.0.
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.
- TBC1D32HGNC:21485
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: orofaciodigital syndrome IX
- Also called
- OFD9oral-facial-digital syndrome type 9oral-facial-digital syndrome with retinal abnormalitiesorofaciodigital syndrome type IXorofaciodigital syndrome with retinal abnormalities