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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 2E

Pontocerebellar hypoplasia type 2E

Summary

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HCCS1, PCH2E, hVps53L, pp13624, VPS53
    Summary: VPS53 subunit of GARP complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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