Cone-Rod Dystrophy 13

Alternative Names

  • CORD13
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

608194

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q11.2

Description

Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
608194.G.1Saudi ArabiaUnknownYesYes Visual impairmentNM_020366.3:c.1107delHomozygousAutosomal, RecessivePatel et al, 2018 4 members of a famil...
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