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GRIN-related complex neurodevelopmental disorder

MONDO:1060138

A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved.

26 clinical trials for this condition and its sub-types.

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Sub-types

Developmental and epileptic encephalopathy 101 (0) Developmental and epileptic encephalopathy, 27 (0) Developmental and epileptic encephalopathy, 46 (0) Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (0) GRIN1-related complex neurodevelopmental disorder (0) GRIN2A-related complex neurodevelopmental disorder (0) GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep (0) GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome (0) GRIN2A-related self-limited epilepsy with centrotemporal spikes (0) GRIN2B-related complex neurodevelopmental disorder (0) Intellectual disability, autosomal dominant 6 (0) Landau-Kleffner syndrome (0) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (0) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Human disease (14) Hereditary neurological disease (5) Complex neurodevelopmental disorder (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 14 Not yet recruiting 5 Not yet finished but already full! 2 Completed 5
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