GRIN-related complex neurodevelopmental disorder

GRIN-related complex neurodevelopmental disorder is a group of conditions that affect the brain and development. These conditions are caused by changes in genes that make parts of the NMDA receptor, which is important for brain communication. The disorder is linked with a range of challenges and can affect movement, speech, and cognitive abilities. The severity and specific problems vary from person to person. Some people may experience developmental delays or difficulties with learning, while others may have issues with seizures, movement, or behavior. The wide variety of symptoms makes each case unique.

People with this condition may experience developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairments, and neuropsychiatric challenges. The range and severity of these symptoms can differ based on the specific gene mutation present.

The condition is caused by pathogenic variants in genes that encode subunits of the NMDA receptor. Changes in genes such as GRIN1, GRIN2A, GRIN2B, and GRIN2D can affect how the receptor works, which in turn can influence brain development and function. This genetic alteration underlies the diverse symptoms seen in the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is limited for this condition.