- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. (OMIM:260200)
- Pallidal degeneration (HP:0007132): Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. Evidence: TAS. (OMIM:260200)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. (OMIM:260200)
- Progressive extrapyramidal muscular rigidity (HP:0007158): A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). Evidence: TAS. (OMIM:260200)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Onset: Infantile onset (HP:0003593). (OMIM:260200)
These phenotypes are associated with the disease PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA (OMIM:260200).