| 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:0000012 | Urinary urgency | |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000571 | Hypometric saccades | |
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| HP:0000651 | Diplopia | "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] |
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| HP:0000666 | Nystagmus, horizontal | |
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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:0000802 | Impotence | |
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| HP:0001152 | Saccadic smooth pursuit | |
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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: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:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002064 | Spastic gait | |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002317 | Unsteady gait | |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002322 | Resting tremor | "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators] |
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| HP:0002346 | Head tremor | |
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| HP:0002497 | Spastic ataxia | |
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| HP:0002511 | Alzheimer disease | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [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:0003677 | Slow progression | |
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| HP:0003765 | Psoriasis | |
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| HP:0006855 | Cerebellar vermis atrophy | |
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| HP:0006938 | Decreased vibration sense at ankles | |
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| HP:0007001 | Loss of purkinje cells in the cerebellar vermis | |
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| HP:0007351 | Upper limb postural tremor | |
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| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
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| HP:0007979 | Gaze-evoked horizontal nystagmus | "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
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| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] |
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| HP:0012759 | Neurodevelopmental abnormality | "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [KI:phemming] |
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| HP:0030890 | Hyperintensity of cerebral white matter on MRI | "A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [PMID:15576652] |
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| HP:0031166 | Eyelid myokymia | "Involuntary, fine, continuous, undulating contractions of the eyelid." [] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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