OBO ID: DOID:0090003
Term Name: agenesis of the corpus callosum with peripheral neuropathy Search Ontology:
Synonyms:
  • 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. (2)
References:
Ontology: Human Disease   (DOID:0090003)
OTHER agenesis of the corpus callosum with peripheral neuropathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy 218000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None