Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 6
Definition
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 fatal infantile encephalopathy with mitochondrial respiratory chain defects, non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2, PCH6, pontocerebellar hypoplasia type 6, RARS2 non-syndromic pontocerebellar hypoplasia — per MONDO