Condition: Pontocerebellar Hypoplasia Type 1
rs137853063
in
VRK1
gene and
Pontocerebellar Hypoplasia Type 1
PMID 24126608
2013 Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
PMID 26633545
2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.