| 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:0001265 | Hyporeflexia | |
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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:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001765 | Hammer toes | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003392 | First dorsal interossei muscle weakness | |
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| HP:0003393 | Thenar muscle atrophy | |
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| HP:0003426 | First dorsal interossei muscle atrophy | |
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| HP:0003427 | Thenar muscle weakness | |
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| HP:0003435 | Cold-induced hand cramps | |
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| HP:0003484 | Upper limb involvement may occur later | |
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| HP:0003674 | Age of onset | |
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| HP:0003677 | Slow progression | |
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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:0009129 | Amyotrophy involving the upper limbs | "Muscular atrophy involving the muscles of the upper limbs." [HPO:curators] |
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