brachyolmia type 1, Hobaek type
MONDO:0010070Mondo
Findings
No curated finding names brachyolmia type 1, Hobaek type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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-trunk short statureHPOHP:0003521
- 2 of 2 reported patients
- Increased upper to lower segment ratioHPOHP:0012774
- 2 of 2 reported patients
- Intervertebral space narrowingHPOHP:0002945
- 2 of 2 reported patients
- Irregular vertebral endplatesHPOHP:0003301
- 2 of 2 reported patients
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- Back painHPOHP:0003418
- 1 of 2 reported patients
- KyphosisHPOHP:0002808
- 1 of 2 reported patients
- Lumbar hypolordosisHPOHP:0034770
- 1 of 2 reported patients
- Thoracic scoliosisHPOHP:0002943
- 1 of 2 reported patients
- Corneal opacityHPOHP:0007957
- 0 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 2 reported patients
- Opacification of the corneal stromaHPOHP:0007759
- 0 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: brachyolmia type 1, Hobaek type
- Also called
- BCYM1A