" /> Retinitis pigmentosa 7 - CISMeF





Preferred Label : Retinitis pigmentosa 7;

Symbol : RP7;

CISMeF acronym : LCA18; RP7;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa 7, digenic; Leber congenital amaurosis 18; LCA18;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the peripherin 2 gene (PRPH2, 179605.0001);

Prefixed ID : #608133;

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03/05/2025


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