GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 7


Pontocerebellar hypoplasia type 7 is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by Anderson et al., 2011). For a general 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: PCH7, hCaf1z, TOE1
    Summary: target of EGR1, exonuclease

Clinical features


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