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General Information
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| Term |
agenesis of the corpus callosum with peripheral neuropathy |
ID (Ontology) |
DOID:0090003 (Human Disease) |
| 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. |
| Also Known As |
"Andermann syndrome" ; "Charlevoix disease" ; "corpus callosum agenesis-neuronopathy syndrome" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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agenesis of the corpus callosum with peripheral neuropathy | 1 | for disease ribbon | agenesis of the corpus callosum with peripheral neuropathy | 1 | model of | agenesis of the corpus callosum with peripheral neuropathy | 1 |
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Relationships