amelogenesis imperfecta, hypomaturation type, IIa6
MONDO:0014971Mondo
Findings
No curated finding names amelogenesis imperfecta, hypomaturation type, IIa6 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
3 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.
- Anterior open-bite malocclusionHPOHP:0009102
- 1 of 10 reported patients
- Amelogenesis imperfectaHPOHP:0000705
- Enamel hypomineralizationHPOHP:0006285
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.
- GPR68HGNC:4519
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: amelogenesis imperfecta, hypomaturation type, IIa6
- Also called
- AI2A6amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6