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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 97

Developmental and epileptic encephalopathy 97

Summary

Developmental and epileptic encephalopathy-97 (DEE97) is characterized by developmental delay, epileptic encephalopathy, and impaired intellectual development. Other clinical features may include autistic features and hypotonia. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [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: BRUNOL3, CELF-2, CUG-BP2, CUGBP2, DEE97, ETR-3, ETR3, NAPOR, CELF2
    Summary: CUGBP Elav-like family member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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