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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 1E

Pontocerebellar hypoplasia, type 1E

Summary

Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by Braunisch et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMSN6B, PCH1E, SLC25A46
    Summary: solute carrier family 25 member 46

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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