Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant

Preferred Label : Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant;

NCIt synonyms : NDHMSD;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the GRIN1 gene, encoding glutamate receptor ionotropic, NMDA 1. It is characterized by developmental delay, intellectual disability and may include epilepsy and associated muscular disorders.;

NCI Metathesaurus CUI : CL577935;

Details

Origin ID

C206518;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

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