Phenotypes associated with the disease X-linked Charcot-Marie-Tooth disease type 5 (ORPHA:99014):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- 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: Very frequent (HP:0040281). (ORPHA:99014)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Language impairment (HP:0002463): Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99014)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99014)
- Peripheral neuropathy (HP:0009830): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)
- Abnormal nerve conduction velocity (HP:0040129). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99014)