Phenotypes associated with the disease Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome (ORPHA:90103):
- 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 frequent (HP:0040281). (ORPHA:90103)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90103)
- Decreased number of large peripheral myelinated nerve fibers (HP:0003387): A reduced number of large myelinated nerve fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90103)
- Decreased amplitude of sensory action potentials (HP:0007078): A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90103)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90103)
- Lower limb amyotrophy (HP:0007210): Muscular atrophy affecting the lower limb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90103)
- Severe sensorineural hearing impairment (HP:0008625): A severe form of sensorineural hearing impairment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90103)
- 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: Frequent (HP:0040282). (ORPHA:90103)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- 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:90103)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Areflexia of lower limbs (HP:0002522): Inability to elicit tendon reflexes in the lower limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Abnormality of peripheral nerve conduction (HP:0003134): An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Distal sensory impairment of all modalities (HP:0003409): Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Absent Achilles reflex (HP:0003438): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Impaired vibration sensation at ankles (HP:0006938): A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Calf muscle hypoplasia (HP:0008962): Underdevelopment of the muscuklature of the calf. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Amyotrophy of ankle musculature (HP:0009031): Atrophy of the muscles of the ankle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Upper limb amyotrophy (HP:0009129): Muscular atrophy involving the muscles of the upper limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90103)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90103)
- Areflexia of upper limbs (HP:0012046): Inability to elicit tendon reflexes in the upper limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90103)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90103)
Not associated with this disease:
- Axonal degeneration (HP:0040078). Evidence: TAS. (ORPHA:90103)