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.