osteogenesis imperfecta, type XXII
MONDO:0030714Mondo
Findings
No curated finding names osteogenesis imperfecta, type XXII yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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 long bonesHPOHP:0006487
- 3 of 3 reported patients
- Recurrent fracturesHPOHP:0002757
- 3 of 3 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Slender long boneHPOHP:0003100
- 3 of 3 reported patients
- Thin bony cortexHPOHP:0002753
- 1 of 1 reported patient
- Wormian bonesHPOHP:0002645
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 3 reported patients
- PseudoarthrosisHPOHP:0005864
- 2 of 3 reported patients
- Decreased circulating osteocalcin levelHPOHP:0031429
- 1 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 3 reported patients
Show the remaining 5
- Multiple prenatal fracturesHPOHP:0005855
- 1 of 3 reported patients
- Multiple small vertebral fracturesHPOHP:0005877
- 1 of 3 reported patients
- Abnormal circulating calcium concentrationHPOHP:0004363
- 0 of 3 reported patients
- Abnormal circulating phosphate ion concentrationHPOHP:0100529
- 0 of 3 reported patients
- Dentinogenesis imperfectaHPOHP:0000703
- 0 of 3 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.
- CCDC134HGNC:26185
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: osteogenesis imperfecta, type XXII
- Also called
- OI22osteogenesis imperfecta, IIA