U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hydrocephalus, congenital, 5, susceptibility to

Hydrocephalus, congenital, 5, susceptibility to

Summary

Congenital hydrocephalus-5 (HYC5) is an autosomal dominant condition characterized by hydrocephalus associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities (Furey et al., 2018). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3, SMARCC1
    Summary: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1

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.