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Pontocerebellar hypoplasia type 6

Disease definition

A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.


Classification level: Disorder
  • Synonym(s):
    • Fatal infantile encephalopathy with mitochondrial respiratory chain defects
    • PCH6
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q04.3
  • ICD-11: LD20.01
  • OMIM: 611523
  • UMLS: C1969084
  • MeSH: C548074
  • GARD: 10710
  • MedDRA: -

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.