GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 3

Summary

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.

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Genes See tests for all associated and related genes

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

Clinical features

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