- Few cafe-au-lait spots (HP:0007429): The presence of two to five cafe-au-lait macules. Evidence: IEA. (OMIM:162260)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: IEA. (OMIM:162260)
- Paraspinal neurofibroma (HP:0006751): A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine. Evidence: IEA. (OMIM:162260)
- Palmar neurofibroma (HP:0007576): A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand. Evidence: IEA. (OMIM:162260)
- Bilateral vestibular schwannoma (HP:0009589): A bilateral vestibular schwannoma (acoustic neurinoma). Evidence: IEA. (OMIM:162260)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:162260)
- Lisch nodules (HP:0009737): The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. Evidence: IEA. (OMIM:162260)
These phenotypes are associated with the disease neurofibromatosis, type III, mixed central and peripheral (OMIM:162260).