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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 1F

Pontocerebellar hypoplasia, type 1F

Summary

Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by Somashekar et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CGI-108, CSL4, Csl4p, PCH1F, SKI4, Ski4p, p13, EXOSC1
    Summary: exosome component 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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