U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

Summary

Excerpted from the GeneReview: GRIN1-Related Neurodevelopmental Disorder
GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD 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
Johannes R Lemke
view full author information

Available tests

9 tests are in the database for this condition.

Clinical tests (9 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.