agenesis of the corpus callosum with peripheral neuropathy

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc12a6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000902 - agenesis of the corpus callosum with peripheral neuropathy

MONDO:0000902 - agenesis of the corpus callosum with peripheral neuropathy

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), neurodegenerative disease (is_a)