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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 8

Pontocerebellar hypoplasia type 8

Summary

gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. [from ORDO]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 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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