amelogenesis imperfecta hypomaturation type 2A3
MONDO:0013181Mondo
Findings
No curated finding names amelogenesis imperfecta hypomaturation type 2A3 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 WDR72 gene.
Definition from the Mondo Disease Ontology (MONDO:0013181), read 2026-09-29. CC BY 4.0.
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.
- WDR72HGNC:26790
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: amelogenesis imperfecta hypomaturation type 2A3
- Also called
- AI2A3amelogenesis imperfecta caused by mutation in WDR72amelogenesis imperfecta, type IIA3WDR72 amelogenesis imperfecta