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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 11

Pontocerebellar hypoplasia, type 11

Summary

Pontocerebellar hypoplasia type 11 (PCH11) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with impaired intellectual development and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from OMIM]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NS4ATP1, PCH11, TBC1D23
    Summary: TBC1 domain family member 23

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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