Skip to Accessibility Menu Skip to Login Skip to Content Skip to Footer

Pontocerebellar hypoplasia type 6

What is Pontocerebellar hypoplasia type 6?

Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.

Other condition names

  • Fatal infantile encephalopathy with mitochondrial respiratory chain defects
  • PCH6

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.