| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000492 | Abnormality of the eyelid | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000514 | Slow saccades | |
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| HP:0000605 | Supranuclear gaze palsy | |
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| HP:0001258 | Spastic paraplegia | |
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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: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:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002064 | Spastic gait | |
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| HP:0002070 | Limb ataxia | |
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| HP:0002166 | Decreased vibratory sense in the lower limbs | "A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
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| HP:0002354 | Memory impairment | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002464 | Spastic dysarthria | |
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| HP:0002497 | Spastic ataxia | |
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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:0003828 | Variable expressivity | |
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| HP:0006961 | Jerky head movements | |
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| HP:0008969 | Leg muscle stiffness | |
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| HP:0010831 | Impaired proprioception | "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson] |
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