label: pontocerebellar hypoplasia type 4
label_lc: pontocerebellar hypoplasia type 4
description: Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.