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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 10

Pontocerebellar hypoplasia type 10

Summary

Pontocerebellar hypoplasia type 10 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy (summary by Karaca et al., 2014 and Schaffer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEAB, hClp1, CLP1
    Summary: cleavage factor polyribonucleotide kinase subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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