amelogenesis imperfecta, IIa 1K
MONDO:0031084Mondo
Findings
No curated finding names amelogenesis imperfecta, IIa 1K 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
2 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.
- Amelogenesis imperfectaHPOHP:0000705
- 10 of 10 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 10 of 10 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.
- SP6HGNC:14530
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: amelogenesis imperfecta, IIa 1K
- Also called
- AI1Kamelogenesis imperfecta, hypoplastic IIa 1K