About   Help   FAQ
Disease Ontology Browser
agenesis of the corpus callosum with peripheral neuropathy (DOID:0090003)
Alliance: disease page
Synonyms: Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome
Alt IDs: OMIM:218000, ICD10CM:G60.0, ORDO:1496
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory