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agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
Genetics:
- associated with defects in SLC12A6
Clinical manifestations:
- severe progressive sensorimotor neuropathy mental retardation
- dysmorphic features
- complete or partial agenesis of the corpus callosum
Laboratory:
- SLC12A6 gene mutation
Related
partial agenesis of the corpus callosum
General
agenesis of the corpus callosum
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 218000
References
OMIM :accession 218000