| 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:0001258 | Spastic paraplegia | |
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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: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:0002169 | Clonus | |
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| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002839 | Sphincter disturbances (bladder) | |
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| HP:0003394 | Muscle cramps | |
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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:0007020 | Progressive spastic paraplegia | |
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| HP:0007210 | Lower limb hypotrophy | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0007350 | Hyperreflexia in upper limbs | |
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| HP:0008075 | Progressive pes cavus | |
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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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| HP:0011448 | Ankle clonus | "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson] |
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| HP:0011449 | Knee clonus | ".Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [HPO:probinson] |
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| HP:0030014 | Female sexual dysfunction | |
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| HP:0040307 | Male sexual dysfunction | |
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| HP:0100561 | Spinal cord lesions | |
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