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Pontocerebellar hypoplasia type 6

rare

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.

Identifiers
MONDO:0012683 OMIM:611523Orphanet:166073
Causal genes
RARS2
Part of
Mitochondrial oxidative phosphorylation disorderPontocerebellar hypoplasia
Also known as
encephalopathy fatal infantile with mitochondrial respiratory chain defects · fatal infantile encephalopathy with mitochondrial respiratory chain defects · non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2 · PCH6 · pontocerebellar hypoplasia, type 6

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