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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 14

Pontocerebellar hypoplasia, type 14

Summary

Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by 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-124, CYPL1, PCH14, PPIase, hCyPX, PPIL1
    Summary: peptidylprolyl isomerase like 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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