eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | agenesis of corpus callosum |
| Comorbidity | C0031117|peripheral neuropathy |
| Sentences | 3 |
| PubMedID- 22937264 | In kcc3 knockout mice, an animal model of agenesis of the corpus callosum associated with peripheral neuropathy, some fibers accumulate fluid periaxonally. |
| PubMedID- 20549748 | Mutation in slc12a6 gene encoding kcc3 results in an autosomal recessive disease, known as agenesis of the corpus callosum associated with peripheral neuropathy. |
| PubMedID- 24043619 | Inactivating mutations of the slc12a6 gene encoding kcc3 are the cause of a complex neurological disease known as agenesis of the corpus callosum with peripheral neuropathy, also referred as andermann syndrome (online mendelian inheritance in man (omim) 218000) (4–6). |
Page: 1