GRIN2B-related neurodevelopmental disorder | |
---|---|
Other names | GRIM2B-associated disorder |
Specialty | Medical genetics, Pediatry, Neurology |
Symptoms | Mainly developmental delays, intellectual disabilities, craniofacial dysmorphisms, behavioural problems and muscle tone anomalies |
Complications | Learning disability, communication delay, social ineption |
Usual onset | Birth |
Duration | Lifelong |
Causes | Genetic mutation |
Diagnostic method | Genetic testing and physical examination |
Prevention | None |
Prognosis | Medium |
Frequency | Rare, only 100 cases have been described in medical literature |
Deaths | - |
GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder which is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.[1]
The following list comprises most of the symptoms people with GRIN2B show:[2][3]
Less common symptoms include:[4]
This condition is caused by mutations in the GRIN2B gene, located in chromosome 12.[5]
This gene makes instructions into 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.[6]
Around 100 cases have been described in medical literature.[7]