GRIN1-related complex neurodevelopmental disorder

GRIN1-related complex neurodevelopmental disorder is a condition caused by variations in the GRIN1 gene. These genetic variations affect brain development and result in a range of developmental delays and intellectual disabilities that can vary from mild to profound. In addition to challenges with development and cognition, people with this condition may experience seizures, low muscle tone, movement difficulties, spasticity, feeding problems, and behavior issues. In some cases, there can also be changes in brain structure, such as widespread cortical malformations called polymicrogyria.

Common signs and symptoms include developmental delays or intellectual disability, epilepsy (seizures), muscular hypotonia (low muscle tone), movement disorders, spasticity, feeding difficulties, and behavioral issues. Some individuals may also have abnormalities in the structure of the brain.

This condition is caused by genetic variations in the GRIN1 gene. These variations affect the normal development and function of the brain, leading to the range of developmental and neurological symptoms observed in affected individuals.

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 currently limited for this condition.