Condition: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
rs1461368206
in
SEPSECS
gene and
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PMID 26115735
2015 Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
PMID 20920667
2010 Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.