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

Summary

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). [from OMIM]

Available tests

23 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: LP, PCH2D, SLA, SLA/LP, SEPSECS
    Summary: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Clinical features

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