| 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:0000488 | Retinopathy | |
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| HP:0000505 | Impaired vision | |
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| HP:0000543 | Pale optic disks | |
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| HP:0000572 | Visual loss | |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000618 | Blindness | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000750 | Impaired language development | |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001268 | Mental deterioration | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0003621 | Juvenile onset | |
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| HP:0003678 | Rapidly progressive | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007754 | Macular dystrophy | |
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| HP:0011504 | Bull s eye maculopathy | "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] |
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