Disease - Pontocerebellar hypoplasia 4
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Definition
A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis.
Acronym
PCH4
Synonyms
Encephalopathy fatal infantile with olivopontocerebellar hypoplasia