Disease association ontology term - MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B
Term summary
- ID
- MONDO:0013338
- Name
- Charcot-Marie-Tooth disease recessive intermediate B
- Ontology or CV name
- Disease association
- Definition
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
