| Metadata | |
|---|---|
| ID | DOID:0090003 |
| Name | agenesis of the corpus callosum with peripheral neuropathy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12368912, https://www.ncbi.nlm.nih.gov/pubmed/12838516 |
| Xrefs | |
| Alternateids |
DOID:0060600 |
| Subsets |
DO_rare_slim |
| Synonyms |
Andermann syndrome [EXACT] Charlevoix disease [EXACT] corpus callosum agenesis-neuronopathy syndrome [EXACT] |
| Parent Relationships |