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

Pontocerebellar hypoplasia, type 1D

Summary

Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PCH1D, PM/Scl-75, PMSCL1, RRP45, Rrp45p, p5, p6, EXOSC9
    Summary: exosome component 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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