osteogenesis imperfecta, type 19
MONDO:0049223Mondo
Findings
No curated finding names osteogenesis imperfecta, type 19 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
16 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.
- Biconcave vertebral bodiesHPOHP:0004586
- 1 of 1 reported patient
- Bowing of the legsHPOHP:0002979
- 8 of 8 reported patients
- OsteopeniaHPOHP:0000938
- 8 of 8 reported patients
- Recurrent fracturesHPOHP:0002757
- 8 of 8 reported patients
- RhizomeliaHPOHP:0008905
- 1 of 1 reported patient
- Vertebral wedgingHPOHP:0008422
- 2 of 2 reported patients
- Bowing of the armHPOHP:0006488
- 7 of 8 reported patients
- Multiple prenatal fracturesHPOHP:0005855
- 7 of 8 reported patients
- ScoliosisHPOHP:0002650
- 4 of 8 reported patients
- Pectus carinatumHPOHP:0000768
- 3 of 8 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 8 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 8 reported patients
Show the remaining 4
- Dentinogenesis imperfectaHPOHP:0000703
- 0 of 8 reported patients
- Hearing impairmentHPOHP:0000365
- 0 of 8 reported patients
- Joint hypermobilityHPOHP:0001382
- 0 of 8 reported patients
- Severe short statureHPOHP:0003510
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.
- MBTPS2HGNC:15455
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: osteogenesis imperfecta, type 19
- Also called
- osteogenesis imperfecta, type XIX, X-linked recessive