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Summary Literature (1)
DOID:0090003 - agenesis of the corpus callosum with peripheral neuropathy


Disease Ontology 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.

Synonyms: Andermann syndrome, Charlevoix disease, corpus callosum agenesis-neuronopathy syndrome

In OMIM:
OMIM:218000 - AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

In Mondo Disease Ontology:
MONDO:0000902 - agenesis of the corpus callosum with peripheral neuropathy

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : slc12a6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): neurodegenerative disease (is_a)