orofaciodigital syndrome XV
MONDO:0014932Mondo
Findings
No curated finding names orofaciodigital syndrome XV yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Duplication of phalanx of halluxHPOHP:0010066
- 1 of 1 reported patient
- Flat faceHPOHP:0012368
- 1 of 1 reported patient
- HydronephrosisHPOHP:0000126
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Lobulated tongueHPOHP:0000180
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Midline notch of upper alveolar ridgeHPOHP:0009084
- 1 of 1 reported patient
- Molar tooth sign on MRIHPOHP:0002419
- 1 of 1 reported patient
Show the remaining 3
- Postaxial hand polydactylyHPOHP:0001162
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
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.
- KIAA0753HGNC:29110
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: orofaciodigital syndrome XV
- Also called
- OFD15orofaciodigital syndrome type XV