Variant: rs1553881510 

    present in Gene: SEPSECS
    present in Chromosome: 4
    Position on Chromosome: 25155086
    Alleles of this Variant: -/T

rs1553881510 in SEPSECS gene and Muscle hypotonia PMID 26115735 2015 Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

PMID 26805434 2016 Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

PMID 20920667 2010 Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

PMID 12920088 2003 Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

PMID 26888482 2016 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

PMID 25044680 2014 Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.