hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Findings
No curated finding names hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
Definition from the Mondo Disease Ontology (MONDO:0007093), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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
- 11 of 11 reported patients
- Yellow-brown discoloration of the teethHPOHP:0006286
- 11 of 11 reported patients
- TaurodontiaHPOHP:0000679
- 1 of 11 reported patients
- Amelogenesis imperfectaHPOHP:0000705
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.
- DLX3HGNC:2916
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
- Also called
- AI4AIHHTamelogenesis imperfecta caused by mutation in DLX3amelogenesis imperfecta type 4DLX3 amelogenesis imperfecta