Skip to main content

Table 21 Clinical forms and genes

From: Rett syndrome: a wide clinical and autonomic picture

  Classical Atypical Total
   Hanefeld Congenital Z-RTT ARTT-NOS  
RTT male MECP2 + 2/20 (10 %) 2
RTT females MECP2 + 94/98 (96 %) 18/19 (95 %) 4/20 (20 %) 116
RTT females MECP2- 4/98 (4 %) 1/19 (5 %) 13/20 (65 %) 18
CDKL5 + 12 12
CDKL5-e MECP2-   1     1
FOXG1 + 1 1
MEF2C + 1/20 (5 %) 1
TOTAL 98 (100 %) 13 (100 %) 1 19 (100 %) 20 (100 %) 151