A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3702487015
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F