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

More general terms

• agenesis of the corpus callosum
• genetic syndrome (multisystem disorder)

Additional terms

• partial agenesis of the corpus callosum

Database

• OMIM: https://mirror.omim.org/entry/218000