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

Pontocerebellar hypoplasia, type 1C

Synonyms
HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA

Summary

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIP3, EAP2, OIP2, PCH1C, RRP43, Rrp43p, bA421P11.3, p9, EXOSC8
    Summary: exosome component 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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