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A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive.
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