- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: IEA. (OMIM:182815)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: IEA. (OMIM:182815)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: IEA. (OMIM:182815)
- Onion bulb formation (HP:0003383): Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. Evidence: IEA. (OMIM:182815)
- Demyelinating motor neuropathy (HP:0007220): Demyelination of peripheral motor nerves. Evidence: PCS. (OMIM:182815)
- Demyelinating sensory neuropathy (HP:0011402): Demyelination of peripheral sensory nerves. Evidence: PCS. (OMIM:182815)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: IEA. (OMIM:182815)
- 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:182815)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: IEA. (OMIM:182815)
These phenotypes are associated with the disease spastic paraplegia-neuropathy-poikiloderma syndrome (OMIM:182815).