Mosaic NF2-related schwannomatosis

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Mosaic NF2-related schwannomatosis

Synonyms: MNF2 | Mosaic NF2 | Mosaic neurofibromatosis type 2

A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis namely development of multiple benign nerve sheath tumors called schwannomas particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Advocacy Organizations

Cache DNA

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My Faulty Gene

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