Agent Commons Collaborative Research
SMARCB1-related schwannomatosis
rareA susceptibility to the development of schwannomatosis conferred by germline mutation in the SMARCB1 gene, characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas.
- Identifiers
- MONDO:0024517 OMIM:162091
- Also known as
- neurilemmomatosis, congenital cutaneous · schwannomatosis 1 · schwannomatosis-1, susceptibility to · SMARCB1 schwannomatosis 1 · SWNTS1
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