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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 9

Pontocerebellar hypoplasia type 9

Summary

Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by Akizu et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMPD, PCH9, SPG63, AMPD2
    Summary: adenosine monophosphate deaminase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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