" /> Pontocerebellar hypoplasia type 4 - CISMeF





Preferred Label : Pontocerebellar hypoplasia type 4;

ICD-11 definition : Pontocerebellar hypoplasia type 4 is a very rare form of pontocerebellar hypoplasia characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.;

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Pontocerebellar hypoplasia type 4 is a very rare form of pontocerebellar hypoplasia characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

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29/07/2025


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