Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Findings
No curated finding names Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
Definition from the Mondo Disease Ontology (MONDO:0008960), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- Very frequent (80% to 99% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Very frequent (80% to 99% of cases)
- Decreased number of large peripheral myelinated nerve fibersHPOHP:0003387
- Very frequent (80% to 99% of cases)
- Lower limb amyotrophyHPOHP:0007210
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Calf muscle hypoplasiaHPOHP:0008962
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- Distal sensory impairment of all modalitiesHPOHP:0003409
- Frequent (30% to 79% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
- Also called
- hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibershereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres