Condition: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
rs879253779 in
TSEN15 gene and
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PMID 27392077 2016 Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.