- EMG: neuropathic changes (HP:0003445, a Human Phenotype Ontology term): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: IEA. (OMIM:158590)
- Distal lower limb muscle weakness (HP:0009053, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the legs. Evidence: TAS. (OMIM:158590)
- Distal muscle weakness (HP:0002460, a Human Phenotype Ontology term): Reduced strength of the musculature of the distal extremities. Evidence: IEA. (OMIM:158590)
- Paralysis (HP:0003470, a Human Phenotype Ontology term): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: IEA. (OMIM:158590)
- Paresis of extensor muscles of the big toe (HP:0002601, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:158590)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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. Evidence: IEA. (OMIM:158590)
- Areflexia of lower limbs (HP:0002522, a Human Phenotype Ontology term): Inability to elicit tendon reflexes in the lower limbs. Evidence: IEA. (OMIM:158590)
- Hyporeflexia of lower limbs (HP:0002600, a Human Phenotype Ontology term): Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: TAS. (OMIM:158590)
These phenotypes are associated with the disease neuronopathy, distal hereditary motor, type 2A (OMIM:158590, an entry in Online Mendelian Inheritance in Man).