orofacial cleft 15
MONDO:0014772Mondo
Findings
No curated finding names orofacial cleft 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014772), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Bilateral cleft lipHPOHP:0100336
- 2 of 2 reported patients
- Bilateral cleft palateHPOHP:0100337
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Ectropion of lower eyelidsHPOHP:0007651
- 2 of 2 reported patients
- EuryblepharonHPOHP:0012905
- 2 of 2 reported patients
- LagophthalmosHPOHP:0030001
- 2 of 2 reported patients
- Sparse eyebrowHPOHP:0045075
Show the remaining 10
- Hyponasal speechHPOHP:0100271
- 1 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 2 reported patients
- Palate fistulaHPOHP:0010294
- 1 of 2 reported patients
- Protruding earHPOHP:0000411
- 1 of 2 reported patients
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.
- DLX4HGNC:2917
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: orofacial cleft 15
- Also called
- cleft lip/palate caused by mutation in DLX4DLX4 cleft lip/palateOFC15orofacial cleft type 15