" /> Genitourinary and/or brain malformation syndrome - CISMeF





Preferred Label : Genitourinary and/or brain malformation syndrome;

Symbol : GUBS;

CISMeF acronym : GUBS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 1, regulatory subunit 12A gene (PPP1R12A, 602021.0001);

Prefixed ID : #618820;

Details


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07/07/2025


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