OBO ID: DOID:0090003 |
Term Name: | agenesis of the corpus callosum with peripheral neuropathy | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0090003 ) |
OTHER agenesis of the corpus callosum with peripheral neuropathy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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