| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000546 | Retinal degeneration | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001311 | Neurophysiological abnormality | |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002074 | Autofluorescent lipopigment in neurons | |
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| HP:0002333 | Motor deterioration | |
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| HP:0002352 | Leukoencephalopathy | |
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| HP:0002367 | Visual hallucinations | |
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| HP:0003205 | Curvilinear profiles ultrastructurally | |
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| HP:0003208 | Fingerprint profiles ultrastructurally | |
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| HP:0003226 | Rectilinear profiles ultrastructurally | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003657 | Granular osmiophilic deposits (GROD) in cells | |
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| HP:0008765 | Auditory hallucinations | |
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