Cataract 12, Multiple Types

Alternative Names

  • CTRCT12
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

OMIM Number

611567

Mode of Inheritance

Autosomal dominant 

Gene Map Locus

3q22.1

Description

CTRCT12 is a rare genetic disorder characterized by multiple types of cataracts, typically of congenital or juvenile onset with varying severity.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
611567.1.1Saudi ArabiaFemaleYesYes Cortical cataract; Juvenile onsetNM_003571.3:c.598_599dupHomozygousAutosomal, RecessiveAldamesh et al, 2011; Khan et al. 2015; Patel et al. 2017 First report of rece...
611567.1.2Saudi ArabiaFemaleYesYes Cortical cataract; Juvenile onset;NM_003571.3:c.598_599dupHomozygousAutosomal, RecessiveAldamesh et al, 2011; Khan et al. 2015; Patel et al. 2017 Sister of 611567.1.1...
611567.1.3Saudi ArabiaFemaleYesYes Cortical cataract; Juvenile onset;NM_003571.3:c.598_599dupHomozygousAutosomal, RecessiveAldamesh et al, 2011; Khan et al. 2015; Patel et al. 2017 Sister of 611567.1.1...
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