" /> Cataract 22, multiple types - CISMeF





Preferred Label : Cataract 22, multiple types;

Symbol : CTRCT22;

CISMeF acronym : CATCN2; CTRCT22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CATCN2; Cataract, congenital nuclear, autosomal recessive 2;

Description : Mutations in the CRYBB3 gene have been identified in 2 families with cataract, described as congenital nuclear cataract with cortical riders. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.';

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the beta-B3 crystallin gene (CRYBB3, 123630.0001);

Prefixed ID : #609741;

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03/05/2025


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