GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 2e


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.

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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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