Catalog

Pontocerebellar hypoplasia type 6

No MMS code

Link to WHO Definition

Pontocerebellar hypoplasia type 6 – http://id.who.int/icd/entity/1612653027

Pontocerebellar hypoplasia type 6 is a rare form of pontocerebellar hypoplasia characterised clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.