- Schwannoma (HP:0100008): A benign nerve sheath tumor composed of Schwann cells. Evidence: PCS. Frequency: 23/23. (PMID:24362817)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 23/23. (PMID:24362817)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: PCS. (PMID:24362817)
- Spinal cord tumor (HP:0010302): A neoplasm affecting the spinal cord. Evidence: PCS. (PMID:24362817)
- 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:24362817)
These phenotypes are associated with the disease LZTR1-related schwannomatosis (OMIM:615670).