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GTR Home > Conditions/Phenotypes > Hydrocephalus, congenital communicating, 1

Hydrocephalus, congenital communicating, 1

Synonyms
HYDROCEPHALUS, CONGENITAL, 4

Summary

Congenital hydrocephalus-4 (HYC4) is characterized by inadequate passage of cerebrospinal fluid (CSF) from its point of production to its point of absorption, in the absence of obstruction (communicating hydrocephalus). Patients undergo surgical shunting at birth because of extreme ventriculomegaly. Patients have neurodevelopmental delay and epilepsy (Furey et al., 2018). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HYC4, HYDCC1, LIN-41, LIN41, TRIM71
    Summary: tripartite motif containing 71

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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