U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Periventricular nodular heterotopia 7

Periventricular nodular heterotopia 7

Summary

Periventricular nodular heterotopia-7 (PVNH7) is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049. [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2, NEDD4L
    Summary: NEDD4 like E3 ubiquitin protein ligase

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.