Pontocerebellar hypoplasia type 6

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.

Also known as: PCH6, RARS2 non-syndromic pontocerebellar hypoplasia, fatal infantile encephalopathy with mitochondrial respiratory chain defects, non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2, pontocerebellar hypoplasia type 6, encephalopathy fatal infantile with mitochondrial respiratory chain defects, encephalopathy, fatal infantile, with mitochondrial respiratory chain defects, pontocerebellar hypoplasia, type 6

14 clinical trials for this condition and its sub-types, 2 tagged with Pontocerebellar hypoplasia type 6 itself.