Condition: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
rs113994152
in
TSEN54
gene and
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PMID 18711368
2008 tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
PMID 23177318
2013 Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.
PMID 24886362
2014 Natural course of pontocerebellar hypoplasia type 2A.