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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
agenesis of the corpus callosum with peripheral neuropathy
Summary
- Synonym
-
- Andermann syndrome
- Charlevoix disease
- corpus callosum agenesis-neuronopathy syndrome
- 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.
- Super Class
- autosomal recessive disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0090003
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
