" /> Peters-plus syndrome - CISMeF





Preferred Label : Peters-plus syndrome;

Symbol : PTRPLS;

CISMeF acronym : PTRPLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Peters anomaly with short-limb dwarfism; Krause-kivlin syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta 3-glucosyltransferase gene (B3GLCT, 610308.0001);

Prefixed ID : #261540;

Details


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02/05/2025


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