osteogenesis imperfecta, type 21
MONDO:0030861Mondo
Findings
No curated finding names osteogenesis imperfecta, type 21 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
- Infantile onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Disproportionate short-limb short statureHPOHP:0008873
- 4 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 3 reported patients
- OsteoporosisHPOHP:0000939
- 3 of 3 reported patients
- Bowing of the legsHPOHP:0002979
- 5 of 6 reported patients
- Bowing of the armHPOHP:0006488
- 3 of 6 reported patients
- ScoliosisHPOHP:0002650
- 3 of 6 reported patients
- Wormian bonesHPOHP:0002645
- 1 of 2 reported patients
- Barrel-shaped chestHPOHP:0001552
- 2 of 6 reported patients
- HypotoniaHPOHP:0001252
- 2 of 6 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 6 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 1 of 6 reported patients
- Coxa valgaHPOHP:0002673
- 1 of 6 reported patients
Show the remaining 6
- Coxa varaHPOHP:0002812
- 1 of 6 reported patients
- Pes planusHPOHP:0001763
- 1 of 6 reported patients
- Pes valgusHPOHP:0008081
- 1 of 6 reported patients
- PlatyspondylyHPOHP:0000926
- 1 of 6 reported patients
- Motor delayHPOHP:0001270
- Recurrent fracturesHPOHP:0002757
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.
- KDELR2HGNC:6305
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: osteogenesis imperfecta, type 21
- Also called
- OI21osteogenesis imperfecta 21osteogenesis imperfecta, TYPE XXI