Skip to main content

Table 23 ISS total score and MECP2 mutations

From: Rett syndrome: a wide clinical and autonomic picture

ISS total Early truncating
(n = 22)
Late truncating
(n = 8)
Large deletion
(n = 18)
Frameshift
(n = 9)
Missense
(n = 39)
C ter del
(n = 18)
Mean (SD) 21.3 (6.2) 16.7 (4.7) 19.2 (5.9) 20.3 (7) 18.4 (5.7) 14.2 (6)