| 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: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:0001249 | Mental retardation | |
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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:0001310 | Dysmetria | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0002070 | Limb ataxia | |
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| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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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:0002392 | EEG shows 3-4-Hz spike and multispike slow wave complexes | |
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| HP:0003390 | Sensory axonal neuropathy | "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] |
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| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| HP:0003676 | Progressive disorder | |
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| HP:0007000 | Morning myoclonic jerks | |
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| HP:0010819 | Atonic seizures | "A type of `seizure` (HP:0001250) characterized by a suddenloss of musle tone. Usually, consciousness is retained. In an atonic seizure, the eyelids may droop, the head may nod, and the person may drop things and fall to the ground." [HPO:probinson] |
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