Condition: Atrophy of corpus callosum


rs779027563 in CNTNAP1 gene and Atrophy of corpus callosum PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs387906799 in KIF1A gene and Atrophy of corpus callosum PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.