osteogenesis imperfecta type 12
Findings
No curated finding names osteogenesis imperfecta type 12 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 SP7 gene.
Definition from the Mondo Disease Ontology (MONDO:0013460), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
26 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 the armHPOHP:0006488
- 1 of 1 reported patient
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Bowing of the long bonesHPOHP:0006487
- 1 of 1 reported patient
- Delayed eruption of teethHPOHP:0000684
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Facial asymmetryHPOHP:0000324
- 1 of 1 reported patient
- Generalized osteoporosisHPOHP:0040160
Show the remaining 14
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- OsteoporosisHPOHP:0000939
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
- Prominent supraorbital ridgesHPOHP:0000336
- 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.
- SP7HGNC:17321
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 12
- Also called
- OI12osteogenesis imperfecta caused by mutation in SP7SP7 osteogenesis imperfecta