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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-09-2010
Symbol CORD12
Location 4p15.32
HGNC id 9454
Name cone-rod dystrophy type 12
Corresponding gene PROM1
Main clinical features
  • retinal dystrophy, retinal pigment deposits on the fundus , predominantly in the macular region, loss of cone photoreceptors followed by rod degeneration
  • decreased visual acuity and sensitivity in the central visual field followed by loss of peripheral vision
  • Genetic determination
    Function/system disorder
    Type disease
    Gene product
    Name prominin 1
    Gene mutationChromosome rearrangementEffectComments
    missense     R373C