osteogenesis imperfecta, type 20
MONDO:0032846Mondo
Findings
No curated finding names osteogenesis imperfecta, type 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
30 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.
- Delayed gross motor developmentHPOHP:0002194
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 5 reported patients
- Agenesis of permanent teethHPOHP:0006349
- 2 of 5 reported patients
- Blue scleraeHPOHP:0000592
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 5 reported patients
- KyphoscoliosisHPOHP:0002751
- 2 of 5 reported patients
- Multiple prenatal fracturesHPOHP:0005855
- 2 of 5 reported patients
- Narrow chestHPOHP:0000774
- 2 of 5 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 5 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 5 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 2 of 5 reported patients
Show the remaining 18
- Wormian bonesHPOHP:0002645
- 2 of 5 reported patients
- Asymmetry of the thoraxHPOHP:0001555
- 1 of 5 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 5 reported patients
- Bulbous noseHPOHP:0000414
- 1 of 5 reported patients
- Crumpled earHPOHP:0009901
- 1 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 5 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.
- MESDHGNC:13520
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of