U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 2D

Pontocerebellar hypoplasia type 2D

Synonyms
Progressive cerebello-cerebral atrophy

Summary

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). [from OMIM]

Available tests

35 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (35 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LP, PCH2D, SLA, SLA-p35, SLA/LP, SecS, SEPSECS
    Summary: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.