amelogenesis imperfecta type 1C
MONDO:0008770Mondo
Findings
No curated finding names amelogenesis imperfecta type 1C 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.
- Amelogenesis imperfectaHPOHP:0000705
- 3 of 3 reported patients
- Enamel hypomineralizationHPOHP:0006285
- 3 of 3 reported patients
- TaurodontiaHPOHP:0000679
- 0 of 3 reported patients
- Anterior open-bite malocclusionHPOHP:0009102
- Yellow-brown discoloration of the teethHPOHP:0006286
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.
- ENAMHGNC:3344
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: amelogenesis imperfecta type 1C
- Also called
- AI1Camelogenesis imperfecta, type 1C