Common features of MEPC2 duplication syndrome in boys (NOTE: not all boys with MECP2 will have all of these features and only rarely will girls have any of these features)
- Significant intellectual disability (100%) with limited or absent speech.
- Some may experience developmental regression
- Early onset hypotonia (low muscle tone) with slow motor development
- Sitting, crawling, and walking are very delayed or challenging
- 2/3 of boys may be able to walk
- Progressive spasticity of the lower limbs (usually more in legs than arms)
- Ataxia (uncoordinated movement - particularly with walking)
- 75% get infections easily and often
- Most likely occur as recurrent respiratory infections
- Seizures occur in 50%
- Autistic-like behaviors may be present
- Repetitive movements of hands
- Teeth grinding
- Gastrointestinal dysfunction may be present
- Constipation
- Reflux
- Bladder issues
- Mild facial differences
- Flat head
- Underdevelopment of the middle of the face
- Large ears
- Flat nasal bridge