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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Summary

Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DELTA1, DL1, Delta, NEDBAS, DLL1
    Summary: delta like canonical Notch ligand 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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