Catalog

Pontocerebellar hypoplasia type 2

No MMS code

Link to WHO Definition

Pontocerebellar hypoplasia type 2 – http://id.who.int/icd/entity/1158649247

Pontocerebellar hypoplasia type 2 is the most common subtype of pontocerebellar hypoplasia characterised by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalised clonus, development of chorea and spasticity. The majority of patients will not reach puberty.