short stature with nonspecific skeletal abnormalities 1
MONDO:0014551Mondo
Findings
No curated finding names short stature with nonspecific skeletal abnormalities 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Proportionate short statureHPOHP:0003508
- 16 of 16 reported patients
Genes
2 genes
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.
Where it sits
Other names
1 name
Resolves to: short stature with nonspecific skeletal abnormalities 1
- Also called
- SNSK