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Summary Literature (1)
DOID:0060600 - hereditary motor and sensory neuropathy with agenesis of the corpus callosum


Disease Ontology Definition:A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment.

Synonyms: Andermann syndrome, Charlevoix disease, agenesis of the corpus callosum with peripheral neuropathy, corpus callosum agenesis-neuronopathy syndrome, peripheral neuropathy associated with agenesis of the corpus callosum

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): neuropathy (is_a)