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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 8

Pontocerebellar hypoplasia type 8

Summary

Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A, CHMP1A
    Summary: charged multivesicular body protein 1A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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