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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 2F

Pontocerebellar hypoplasia, type 2F

Summary

Pontocerebellar hypoplasia type 2F (PCH2F) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C1orf19, PCH2F, sen15, TSEN15
    Summary: tRNA splicing endonuclease subunit 15

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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