" /> Macular dystrophy, patterned, 2 - CISMeF





Preferred Label : Macular dystrophy, patterned, 2;

Symbol : MDPT2;

CISMeF acronym : MDPT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macular dystrophy, butterfly-shaped pigmentary, 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 catenin gene (CTNNA1, 116805.0001);

Prefixed ID : #608970;

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01/11/2024


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