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Disease Ontology Browser
hereditary motor and sensory neuropathy with agenesis of the corpus callosum (DOID:0060600)
Synonyms: agenesis of the corpus callosum with peripheral neuropathy; Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome; peripheral neuropathy associated with agenesis of the corpus callosum
Alt IDs: OMIM:218000, ICD10CM:G60.0, MESH:C536446, ORDO:1496, UMLS_CUI:C0795950
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.

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
03/14/2017
MGI 6.08
The Jackson Laboratory