GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 6

Summary

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from OMIM]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: ArgRS, DALRD2, PCH6, PRO1992, RARSL, RARS2
    Summary: arginyl-tRNA synthetase 2, mitochondrial

Clinical features

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