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GENATLAS PHENOTYPE

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
	eye
Type	disease

Remark(s)

. mutation leads to a reduction of the endocochlear potential of the inner ear (Groger 2010)