pontocerebellar hypoplasia type 2A
pontocerebellar hypoplasia type 2A
An autosomal recessive pontocerebellar malformation (OMIM:277470) 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 TSEN54, which encodes a subunit of the tRNA-splicing endonuclease complex.