Term Name: agenesis of the corpus callosum with peripheral neuropathy
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 )

Relationships
is a type of: autosomal recessive disease neurodegenerative disease