FRG1B
Fragile X Syndrome (frg1b)
Description
Fragile X syndrome (frg1b) is a genetic disorder that affects the X chromosome. It is the most common inherited cause of intellectual disability and the second most common cause of autism spectrum disorder (ASD).
frg1b is caused by a mutation in the FMR1 gene, which is located on the X chromosome. This gene produces a protein called FMRP, which is essential for normal brain development. In people with frg1b, the FMR1 gene is either mutated or deleted, leading to a deficiency of FMRP.
Associated Diseases
frg1b can cause a range of symptoms, which can vary in severity. Some of the most common symptoms include:
- Intellectual disability
- Autism spectrum disorder
- Language delays
- Social difficulties
- Hyperactivity
- Attention deficit disorder
- Anxiety
- Seizures
frg1b can also be associated with physical features, such as:
- Large head
- Long, narrow face
- Prominent forehead
- Large ears
- Long fingers
- Hyperextensible joints
Did you Know ?
Approximately 1 in 4,000 males and 1 in 8,000 females have frg1b. This means that frg1b is more common in males than in females.
