Human genes for agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy [DOID:0090003]
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.
Synonyms: agenesis of the corpus callosum with peripheral neuropathy, agenesis of the corpus callosum with peripheral neuropathies, DOID:0090003, Andermann syndrome, Charlevoix disease ...