GRIN2B-related neurodevelopmental disorder
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Other namesGRIM2B-associated disorder
SymptomsMainly developmental delays, intellectual disabilities, craniofacial dysmorphisms, behavioural problems and muscle tone anomalies
ComplicationsLearning disability, communication delay, social ineption
| 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 that 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]
- 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:[4]
- Visual impairment
- Dystonia
- Dyskinesia
- Other choreiform movement disorder