- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Basal lamina onion bulb formation (HP:0003400): A type of onion bulb formation prominently affecting the area of the basal lamina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Progressive spastic paraplegia (HP:0007020). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Demyelinating peripheral neuropathy (HP:0007108): Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
- Loss of eyelashes (HP:0011457): This term refers to the loss of eyelashes that were previously present. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2821)
These phenotypes are associated with the disease Spastic paraplegia-neuropathy-poikiloderma syndrome (ORPHA:2821).