agenesis of the corpus callosum with peripheral neuropathy

A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in

A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.

Signs and symptoms

• Global developmental delay
• Decreased nerve conduction velocity
• Agenesis of corpus callosum
• Increased CSF protein concentration
• Interictal epileptiform activity
• Hypotonia
• Areflexia
• Peripheral neuropathy
• Peripheral axonal neuropathy
• Decreased motor nerve conduction velocity

Also known as: Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome