label: pontocerebellar hypoplasia type 6
label_lc: pontocerebellar hypoplasia type 6
description: "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis."