- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276183)
- Testicular atrophy (HP:0000029): Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276183)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276183)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276183)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276183)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276183)
These phenotypes are associated with the disease Spinocerebellar ataxia type 32 (ORPHA:276183).