| 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:0001171 | Ectrodactyly (hands) | |
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| HP:0001178 | Claw hand deformities (in severe cases) | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001284 | Areflexia | |
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| HP:0001315 | Reduced reflexes | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001761 | Pes cavus | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0002355 | Difficulty walking | |
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| HP:0002380 | Fasciculations | "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002522 | Areflexia in lower limbs | |
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| HP:0002600 | Hyporeflexia of lower limbs | |
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| HP:0002601 | Paresis of extensor muscles of the big toe is presenting symptom | |
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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:0003394 | Muscle cramps | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003444 | EMG shows chronic denervation | |
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| HP:0003445 | EMG shows neuropathic changes | |
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| HP:0003477 | Axonal neuropathy | |
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| HP:0003581 | Onset in adulthood | |
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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:0007267 | Emg shows chronic axonal neuropathy | |
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| HP:0007289 | Limb fasciculations | "Fasciculations affecting the musculature of the arms and legs." [HPO:curators] |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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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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| HP:0009053 | Muscle weakness, lower limb, distal | "Weakness of the distal muscles of the legs." [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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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010829 | Loss of temperature sensation | |
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