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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)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory