- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Demyelinating motor neuropathy (HP:0007220): Demyelination of peripheral motor nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Demyelinating sensory neuropathy (HP:0011402): Demyelination of peripheral sensory nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99939)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Talipes calcaneovalgus (HP:0001884): Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Abnormal motor evoked potentials (HP:0012896): An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Extremely elevated creatine kinase (HP:0030235): An increased creatine kinase level more than 50X above the upper normal level. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Decreased/absent ankle reflexes (HP:0200101). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99939)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99939)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99939)
- Steppage gait (HP:0003376): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99939)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99939)
These phenotypes are associated with the disease Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939).