Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 23-10-2019
Symbol AI3C
Location 11q13.4
Name amelogenesis imperfecta, type IIIC
Corresponding gene RELT
Main clinical features
  • characterized by hypocalcified enamel in both the primary and secondary dentition; the enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides
  • enamel was hypocalcified and missing on maxillary posterior lingual cusps in any cases
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s)