Human genes for vestibular schwannomatosis
Vestibular schwannomatosis [DOID:0111252]
A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
Synonyms: vestibular schwannomatosis, DOID:0111252, vestibular schwannomatosises, ACN, BANF ...