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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-08-2010
Symbol CDPD1
Location 20p13
HGNC id 15704
Name corneal dystrophy associated with teen-age perceptive deafness
Other name(s)
  • Harboyan syndrome
  • corneal dystrophy and perceptive deafness
  • Corresponding gene SLC4A11
    Other symbol(s) CDPD
    Main clinical features
  • late-onset sensorineural deafness and corneal clouding similar to that of congenital hereditary corneal endothelial dystrophy
  • reduced visual acuity, corneal stroma diffusely edematous, with marked thickening; fundus not visualized; electroretinogram normal
  • Genetic determination autosomal recessive
    Function/system disorder ear
    Type disease
    Remark(s) . mutation leads to a reduction of the endocochlear potential of the inner ear (Groger 2010)