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GENATLAS PHENOTYPE

last update : 19-10-2016

Symbol	CORDHL
Location	9q21.2
Name	retinal cone-rod dystrophy with hearing loss
Other name(s)	retinal cone-rod dystrophy 26
Corresponding gene	CEP78
Other symbol(s)	CORD26
Main clinical features	sensorineural hearing loss and visual problems, including loss of color sensitivity and central vision, since childhood, but with relatively late onset of both ocular and hearing impairment at fundus examination showed degenerative changes in the macular region and some spicular pigment in the mid-periphery but fewer changes in the periphery at ERG, no residual cone activity but still revealed some rod-mediated responses, even at late ages
Genetic determination	autosomal recessive
Function/system disorder	ear
	eye
Type	disease

Remark(s)