amelogenesis imperfecta type 3B
MONDO:0021547Mondo
Findings
No curated finding names amelogenesis imperfecta type 3B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
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
- 3 of 3 reported patients
- Enamel hypomineralizationHPOHP:0006285
- 1 of 1 reported patient
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.
- HGNC:33188HGNC:33188
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: amelogenesis imperfecta type 3B
- Also called
- AI3Bamelogenesis imperfecta, type 3Bamelogenesis imperfecta, type IIIB