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Browse result for Agenesis of the corpus callosum with peripheral neuropathy
※ introduction Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum.
It was first described in 1972 by Frederick and Eva Andermann et al.
Reference
Wiki: Agenesis of the corpus callosum with peripheral neuropathy
Reference
Wiki: Agenesis of the corpus callosum with peripheral neuropathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD14164 | Q9UHW9 | 9990 | SLC12A6 | Solute carrier family 12 member 6 | Homo sapiens |
