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Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.
Features include always present findings: Carious teeth, Amelogenesis imperfecta, Nail dysplasia, and Yellow-brown discoloration of the teeth.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Nail dysplasia |
SLC24A4 function has not been fully characterized.
Amelogenesis imperfecta hypomaturation type 2A5 is associated with mutations in the SLC24A4 gene on chromosome 14.
Genetic testing for SLC24A4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:01 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center