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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 46

Developmental and epileptic encephalopathy, 46

Synonyms
Epileptic encephalopathy, early infantile, 46

Summary

Excerpted from the GeneReview: GRIN2D-Related Developmental and Epileptic Encephalopathy
GRIN2D-related developmental and epileptic encephalopathy (GRIN2D-related DEE) is characterized by mild-to-profound developmental delay or intellectual disability, epilepsy, abnormal muscle tone (hypotonia and spasticity), movement disorders (dystonia, dyskinesia, chorea), autism spectrum disorder, and cortical visual impairment. Additional findings can include sleep disorders and feeding difficulties. To date 22 individuals with GRIN2D-related DEE have been reported.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Konrad Platzer
Ilona Krey
Johannes R Lemke
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Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE46, EB11, EIEE46, GluN2D, NMDAR2D, NR2D, GRIN2D
    Summary: glutamate ionotropic receptor NMDA type subunit 2D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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