osteogenesis imperfecta type 15
MONDO:0014086Mondo
Findings
No curated finding names osteogenesis imperfecta type 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014086), read 2026-09-29. CC BY 4.0.
Features
5 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.
- Bowing of limbs due to multiple fracturesHPOHP:0003023
- 9 of 9 reported patients
- Recurrent fracturesHPOHP:0002757
- 9 of 9 reported patients · Infantile onset
- Blue scleraeHPOHP:0000592
- 6 of 9 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 9 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.
- WNT1HGNC:12774
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 15
- Also called
- OI15osteogenesis imperfecta caused by mutation in WNT1WNT1 osteogenesis imperfecta