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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 101

Developmental and epileptic encephalopathy 101

Summary

Developmental and epileptic encephalopathy-101 (DEE101) is a severe autosomal recessive disorder characterized by early infantile epileptic encephalopathy and severe global developmental delay (summary by Blakes et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE101, GluN1, MRD8, NDHMSD, NDHMSR, NMD-R1, NMDA1, NMDAR1, NR1, GRIN1
    Summary: glutamate ionotropic receptor NMDA type subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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