| 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:0000079 | Abnormality of the urinary tract | |
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| HP:0000365 | Hearing loss | |
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| HP:0000572 | Visual loss | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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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:0000751 | Personality changes | |
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| HP:0000802 | Impotence | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [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: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:0002019 | Constipation | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002171 | Gliosis | |
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| HP:0002273 | Tetraparesis | |
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| HP:0002344 | Progressive neurologic deterioration | |
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| HP:0002415 | Leukodystrophy | |
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| HP:0002615 | Hypotension | |
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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:0003581 | Onset in adulthood | |
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| HP:0003676 | Progressive disorder | |
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| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
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| HP:0005341 | Abnormal bladder regulation due to autonomic dysfunction | |
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| HP:0006827 | MRI shows atrophy of the spinal cord | |
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| HP:0006994 | Leukoencephalopathy, diffuse | |
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| HP:0007024 | Pseudobulbar paralysis | "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by `Pseudobulbar behavioral symptoms` (HP:0002193) such as enforced crying and laughing." [HPO:sdoelken] |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0007262 | Demyelination, symmetric | |
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| HP:0007371 | Atrophy/Degeneration of the corpus callosum | "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken] |
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| HP:0007480 | Decreased sweating due to autonomic dysfunction | |
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| HP:0008652 | Impotence due to autonomic dysfunction | |
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| HP:0010955 | Dilatation of the bladder | "The presence of a `dilated` (PATO:0001571) `urinary bladder` (FMA:15900)." [HPO:probinson] |
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