| 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:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000550 | Abolished electroretinogram (ERG) | |
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| HP:0000608 | Macular degeneration | |
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| HP:0000618 | Blindness | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000739 | Anxiety | |
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| HP:0001249 | Mental retardation | |
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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:0001260 | Dysarthria | "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." [HPO:curators] |
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| HP:0001300 | Parkinsonism | |
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| HP:0001317 | Abnormality of the cerebellum | |
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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:0001922 | Vacuolated lymphocytes | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002074 | Autofluorescent lipopigment in neurons | |
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| HP:0002361 | Psychomotor degeneration | |
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| HP:0002505 | Progressive inability to walk | |
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| HP:0003205 | Curvilinear profiles ultrastructurally | |
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| HP:0003208 | Fingerprint profiles ultrastructurally | |
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| HP:0003463 | Lipopigment in extraneuronal cells | |
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| HP:0005157 | Concentric hypertrophic cardiomyopathy | |
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