atypical dentin dysplasia due to SMOC2 deficiency
MONDO:0017819Mondo
Findings
No curated finding names atypical dentin dysplasia due to SMOC2 deficiency 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
5 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.
- Enamel hypoplasiaHPOHP:0006297
- 2 of 2 reported patients
- MicrodontiaHPOHP:0000691
- 2 of 2 reported patients
- OligodontiaHPOHP:0000677
- 2 of 2 reported patients
- Short dental rootHPOHP:0006336
- 2 of 2 reported patients
- TaurodontiaHPOHP:0000679
- 2 of 2 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.
- SMOC2HGNC:20323
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: atypical dentin dysplasia due to SMOC2 deficiency
- Also called
- dentin dysplasia type 1 with microdontia and shape anomaliesdentin dysplasia, type IA