GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 3

Summary

Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from OMIM]

Available tests

5 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ACZ, PCH3, PCLO
    Summary: piccolo presynaptic cytomatrix protein

Clinical features

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