Charcot-Marie-Tooth disease recessive intermediate B
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Sign InDescription
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.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
3