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;
Origin ID : 618820;
UMLS CUI : C5394158;
Genes related to phenotype
HPO term(s)
Semantic type(s)