Pontocerebellar hypoplasia type 4 (Q90414): Difference between revisions

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Latest revision as of 17:23, 15 August 2026

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

Language	Label	Description	Also known as
default for all languages	ID_447667859
English	Pontocerebellar hypoplasia type 4	Pontocerebellar hypoplasia type 4 is a very rare form of pontocerebellar hypoplasia characterised by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.