pontocerebellar hypoplasia type 2B

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pontocerebellar hypoplasia type 2B

An autosomal recessive pontocerebellar malformation (OMIM:612389) characterised by an abnormally small cerebellum and brainstem, progressive microcephaly, poor sucking or swallowing, extrapyramidal dyskinesia and chorea, epilepsy, and a normal spinal cord.

Molecular pathology
Caused by defects of TSEN2, which encodes a subunit of the tRNA-splicing endonuclease complex.