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- B502fd19e3cc720a89a7c96a71bf8fcb6 hasDbXref "Orphanet:163684" @default.
- B502fd19e3cc720a89a7c96a71bf8fcb6 type Axiom @default.
- B502fd19e3cc720a89a7c96a71bf8fcb6 annotatedProperty IAO_0000115 @default.
- B502fd19e3cc720a89a7c96a71bf8fcb6 annotatedSource MONDO_0013391 @default.
- B502fd19e3cc720a89a7c96a71bf8fcb6 annotatedTarget "A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy." @default.