GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 3


A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner. [from SNOMEDCT_US]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: ACZ, PCH3, PCLO
    Summary: piccolo presynaptic cytomatrix protein

Clinical features


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.

Support Center