U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, IIA 17

Pontocerebellar hypoplasia, IIA 17

Synonyms
PONTOCEREBELLAR HYPOPLASIA, TYPE 17

Summary

Pontocerebellar hypoplasia type 17 (PCH17) is a severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Brain imaging shows cerebellar and brainstem hypoplasia. Most affected individuals die in infancy. Those who survive show variable developmental delay. Other features of the disorder include distal hypertonia, poor overall growth, visual defects, autonomic problems, dysmorphic features, and seizures (Coolen et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CDIDHH, MU-MB-20.220, PCH17, PFM10, PRDM13
    Summary: PR/SET domain 13

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.