" /> Rhabdoid tumor predisposition syndrome 2 - CISMeF





Preferred Label : Rhabdoid tumor predisposition syndrome 2;

Symbol : RTPS2;

CISMeF acronym : RTPS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 gene (SMARCA4, 603254.0001);

Neoplasia : Rhabdoid tumors, malignant; Small cell carcinoma of the ovary, hypercalcemic type;

Prefixed ID : #613325;

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31/07/2025


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