Conditions / Syndrome
schwannomatosis 1
info · Syndrome
A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23.
Signs and symptoms
- Peripheral schwannoma
- Spinal cord tumor
- Meningioma
- Vestibular schwannoma
Also known as: SMARCB1-related schwannomatosis; SWN1