GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder that is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.
Signs and symptoms
The following list comprises most of the symptoms people with GRIN2B show: Intellectual disability (mild to severe) Developmental delay (mild to severe) Hypotonia Epilepsy Autism spectrum disorder Autistic-like behavior Microcephaly Hyperactivity Stereotypy Spasticity Feeding difficulties
Less common symptoms include: Visual impairment Dystonia Dyskinesia Other choreiform movement disorder
Causes
This condition is caused by mutations in the GRIN2B gene, located in chromosome 12.
This gene instructs how to make a protein called GluN2B, a type of NMDA receptor, which is found in brain neurons during ante-natal brain development. It is involved in correct brain development and function, regulating memory, synaptic plasticity and the ability of learning.
Epidemiology
Around 100 cases have been described in medical literature.
References