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.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH6
exact
RARS2 non-syndromic pontocerebellar hypoplasia
exact
encephalopathy fatal infantile with mitochondrial respiratory chain defects
related
fatal infantile encephalopathy with mitochondrial respiratory chain defects
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2
exact
pontocerebellar hypoplasia type 6
exact
pontocerebellar hypoplasia, type 6
related
SPBC25B2.09c