Term Name: | agenesis of the corpus callosum with peripheral neuropathy |
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Synonyms: | Andermann syndrome, Charlevoix disease, corpus callosum agenesis-neuronopathy syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0090003] ( DOID:0090003 ) |