|OBO ID: DOID:0090003|
|Term Name:||agenesis of the corpus callosum with peripheral neuropathy||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0090003)|
|is a type of:||
OTHER agenesis of the corpus callosum with peripheral neuropathy PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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