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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 13

Pontocerebellar hypoplasia, type 13

Summary

Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by Uwineza et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANG2, ANG3, C11orf2, C11orf3, FFR, PCH13, VPS51
    Summary: VPS51 subunit of GARP complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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