Catalog

Pontocerebellar hypoplasia type 4

No MMS code

Link to WHO Definition

Pontocerebellar hypoplasia type 4 – http://id.who.int/icd/entity/447667859

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.