pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2CAn autosomal recessive pontocerebellar malformation (OMIM:612390) characterised by an abnormally small cerebellum and brainstem, progressive microcephaly, poor sucking or swallowing, extrapyramidal dyskinesia and chorea, epilepsy, and a normal spinal cord.
Caused by defects of TSEN34, which encodes a subunit of the tRNA splicing endonuclease complex.
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