amelogenesis imperfecta hypomaturation type 2A3

Summary
Synonym
  • AI2A3
  • amelogenesis imperfecta hypomaturation type IIA3
  • amelogenesis imperfecta type IIA3
Definition
An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.
Super Class
amelogenesis imperfecta autosomal recessive disease
Disease Ontology
DOID:0110061
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
256764 WDR72 WD repeat domain 72
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q3MJ13 WD repeat-containing protein 72

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025