- Neurofibroma (HP:0001067): A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. Evidence: PCS. Frequency: 1/5. (PMID:9529361)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/3. (PMID:11704931)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: PCS. Frequency: 5/8. (PMID:11704931;PMID:9529361)
- Freckling (HP:0001480): The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: PCS. Frequency: 0/3. (PMID:11704931)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: PCS. Frequency: 2/5. (PMID:9529361)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. (OMIM:162210)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/3. (PMID:11704931)
- Symmetric spinal nerve root neurofibromas (HP:0006851): Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. Evidence: IEA. (OMIM:162210)
- Plexiform neurofibroma (HP:0009732): A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. Evidence: PCS. Frequency: 1/5. (PMID:9529361)
- Spinal neurofibroma (HP:0009735): A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine. Evidence: PCS. Frequency: 8/8. (PMID:11704931;PMID:9529361)
- 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: PCS. (PMID:9529361)
- Lisch nodules (HP:0009737): The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. Evidence: PCS. Frequency: 2/5. (PMID:11704931;PMID:9529361)
These phenotypes are associated with the disease neurofibromatosis, familial spinal (OMIM:162210).