Table 2
Comparison of signs present in female Rett syndrome, in the male with Q406X, and in the male with 816dup7 reported in the present paper
| Symptom | Rett syndrome | Q406X | 816dup7 |
|---|---|---|---|
| *He rubs his eyes stereotypically. | |||
| Absence of language | + | + | + |
| Seizures | + | + | + |
| Spasticity | + | + | + |
| Atactic gait | + | + | + |
| Sialorrhoea | + | + | When younger |
| Grinding of teeth | + | + | + |
| Microcephaly | + | − | + |
| Stereotypic hand movements | + | − | (+)* |
| Growth retardation | + | − | + |
| Loss of acquired purposeful hand skills | + | − | + |
| Constipation | + | − | + |
| Choreathetotic movements | − | + | − |
| Facial hypotonia | − | + | − |
