| 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:0000572 | Visual loss | |
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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:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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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:0001399 | Hepatic failure | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002121 | Absence seizures | "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson] |
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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:0002186 | Apraxia | "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators] |
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| HP:0002344 | Progressive neurologic deterioration | |
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| HP:0002367 | Visual hallucinations | |
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| HP:0003678 | Rapidly progressive | |
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| HP:0007334 | Partial seizures with secondary generalization | "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson] |
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| HP:0011165 | Visual auras | "Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis." [HPO:jalbers] |
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| HP:0025121 | Simple partial occipital seizures | "A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile." [PMID:12615636] |
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