AMELX

amelogenin, X-linked
OMIM: 300391
PanelMode of inheritanceDetails
1 panel
R-numbers: R340
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Amelogenesis imperfecta, type 1E, 301200, Amelogenesis Imperfecta, Type IE, 301200, X-linked hypoplastic amelogenesis imperfecta, hypomaturation AI with variable hypoplastic foci, smooth hypoplastic AI