Disease association ontology term - MONDO:0008960 - Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Term summary
- ID
- MONDO:0008960
- Name
- Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
- Ontology or CV name
- Disease association
- 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.
