pontocerebellar hypoplasia type 4(redirected from encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia)
pontocerebellar hypoplasia type 4An autosomal recessive pontocerebellar malformation (OMIM:225753) characterised by a severe course and early death.
Caused by defects of TSEN54, which encodes a subunit of the tRNA-splicing endonuclease complex.
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