U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurodevelopmental, jaw, eye, and digital syndrome

Neurodevelopmental, jaw, eye, and digital syndrome

Summary

Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen (Holt et al., 2019). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTRC2, BTRCP2, FBW1B, FBXW1B, Fbw11, Hos, NEDJED, FBXW11
    Summary: F-box and WD repeat domain containing 11

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.