disease:Defects in SMARCB1 are a cause of rhabdoid tumor (RDT) [MIM:609322]; also called malignant rhabdoid tumor (MRT). Tumor suppressor. Inactivated in rhabdoid tumors. Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in early childhood. SMARCB1/INI1 is also frequently inactivated in epithelioid sarcomas.,disease:Defects in SMARCB1 are a cause of schwannomatosis [MIM:162091]; also called congenital cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and der

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