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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 87

Developmental and epileptic encephalopathy, 87

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87

Summary

Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by Chung et al., 2020). [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: CDC2L6, CDK11, DEE87, EIEE87, bA346C16.3, CDK19
    Summary: cyclin dependent kinase 19

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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