/pontocerebellar hypoplasia type 6

pontocerebellar hypoplasia type 6

Rare Disease

MONDO:0012683

Also Known As

PCH6RARS2 non-syndromic pontocerebellar hypoplasiafatal infantile encephalopathy with mitochondrial respiratory chain defectsnon-syndromic pontocerebellar hypoplasia caused by mutation in RARS2pontocerebellar hypoplasia type 6encephalopathy fatal infantile with mitochondrial respiratory chain defectsencephalopathy, fatal infantile, with mitochondrial respiratory chain defectspontocerebellar 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.