" /> Pontocerebellar hypoplasia type 5 - CISMeF





Preferred Label : Pontocerebellar hypoplasia type 5;

ICD-11 definition : Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia with prenatal onset. It is characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.;

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Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia with prenatal onset. It is characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.

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29/07/2025


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