| 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:0000093 | Proteinuria | |
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| HP:0000097 | Focal segmental glomerulosclerosis | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001284 | Areflexia | |
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| HP:0001761 | Pes cavus | |
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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:0002936 | Distal sensory impairment | |
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| HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| HP:0003383 | Onion bulb formations on nerve biopsy | |
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| HP:0003447 | Axonal loss | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003774 | End stage renal disease | |
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| HP:0007149 | Distal muscle atrophy, more severe in the upper limbs | |
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| HP:0008944 | Distal lower limb muscle weakness and atrophy | "Amyotrophy of distal lower leg muscles with resultant weakness." [HPO:curators] |
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| HP:0009027 | Foot dorsiflexor weakness | |
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