Pontocerebellar hypoplasia type 4

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.

Also known as: PCH4, fatal infantile encephalopathy with olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia, encephalopathy fatal infantile with olivopontocerebellar hypoplasia, encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia, pontocerebellar hypoplasia, type 4

1 clinical trial for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 4 itself.