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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, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, DOID:0060600, 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory