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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 6

Pontocerebellar hypoplasia type 6

Synonyms
Encephalopathy fatal infantile with mitochondrial respiratory chain defects
Modes of inheritance
Autosomal recessive inheritance (HPO, OMIM, Orphanet)

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.

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Clinical tests (35 available)

Molecular Genetics Tests

Research 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

Help
Imported from Human Phenotype Ontology (HPO)

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