| 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: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:0001265 | Hyporeflexia | |
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| HP:0001284 | Areflexia | |
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| HP:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
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| HP:0001348 | Brisk reflexes | |
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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:0002355 | Difficulty walking | |
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| HP:0002395 | Lower limb hyperreflexia | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002483 | Bulbar signs | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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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:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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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:0008956 | Proximal lower limb muscle atrophy | "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators] |
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| HP:0008994 | Proximal muscle weakness in lower limbs | "A lack of strength of the proximal muscles of the legs." [HPO:curators] |
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| HP:0009046 | Difficulty walking, running, climbing stairs | |
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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:0030237 | Hand muscle weakness | "Reduced strength of the musculature of the hand." [HPO:probinson] |
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