Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 4
Definition
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 fatal infantile encephalopathy with olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia, PCH4 — per MONDO