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

SymptomRett syndromeQ406X816dup7
*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−+−