| 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:0000317 | Facial myokymia | "Facial myokymia is a fine fibrillary activity of the facial muscles. Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes." [HPO:curators] |
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| HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000739 | Anxiety | |
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| HP:0000746 | Delusions | |
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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:0001272 | Cerebellar atrophy | |
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| HP:0001300 | Parkinsonism | |
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| HP:0001310 | Dysmetria | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators] |
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| HP:0002073 | Progressive cerebellar ataxia | |
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| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
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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:0002120 | Cerebral cortical atrophy | |
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| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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| HP:0002317 | Unsteady gait | |
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| HP:0002345 | Action tremor | "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] |
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| HP:0002346 | Head tremor | |
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| HP:0002375 | Hypokinesia | |
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| HP:0002406 | Limb dysmetria | |
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| HP:0002530 | Axial dystonia | |
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| HP:0007010 | Poor fine motor coordination | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0030188 | Tremor by anatomical site | "Tremor classified by the affected body part." [HPO:probinson] |
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