osteogenesis imperfecta type 16
Findings
No curated finding names osteogenesis imperfecta type 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.
Definition from the Mondo Disease Ontology (MONDO:0014544), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Second trimester onset
HPO, annotations 2026-09-02
Features
20 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.
- Angulated humerusHPOHP:0003863
- 2 of 2 reported patients · Antenatal onset
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Bowing of the long bonesHPOHP:0006487
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- Decreased calvarial ossificationHPOHP:0005474
- 3 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- MesomeliaHPO
Show the remaining 8
- Recurrent fracturesHPOHP:0002757
- 1 of 1 reported patient
- RhizomeliaHPOHP:0008905
- 2 of 2 reported patients
- Short long boneHPOHP:0003026
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Tooth agenesisHPOHP:0009804
- 1 of 1 reported patient
- Vertebral compression fractureHPOHP:0002953
- 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.
- CREB3L1HGNC:18856
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
1 name
Resolves to: osteogenesis imperfecta type 16
- Also called
- OI16