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

Summary

Excerpted from the GeneReview: EXOSC3-Related Pontocerebellar Hypoplasia
EXOSC3-related pontocerebellar hypoplasia (PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. At birth, skeletal muscle weakness manifests as hypotonia (sometimes with congenital joint contractures) and poor feeding. In persons with prolonged survival, spasticity, dystonia, and seizures become evident. Within the first year of life respiratory insufficiency and swallowing difficulties are common. Intellectual disability is severe. Life expectancy ranges from a few weeks to adolescence. To date, 51 individuals with PCH from 36 families with mutation of EXOSC3 have been described.

Available tests

33 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CGI-102, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10, EXOSC3
    Summary: exosome component 3

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