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


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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