MAIN

Representation of symptoms
for each patient

If you are a parent or caregivers of an RS patient who has tested positive for a mutation in MECP2, and would like to contribute to this database, please contact Monica Coenraads or Brian Hendrich  for information about completing a questionnaire. We would love to hear from you!


Separate cases

0 = not affected         1 = mildly affected      2 = severely affected

AA BC Age DI XCI DS AE AS AM BI CO DH ED GF GR IA LP MR NV PN PC RH SC SE SI SF TG TR
Q16X C46T 5.2 RTT RSRF 1 1 0 0 1 1 1 0 1 2 1 0 2 0 0 2 0 0 0 1 0 1
34F/S 100∆4   RTT   36     0     2         2   0 2   2   2        
86F/S 258∆2       4     0     2             2 2   2   2        
L100V C298G   vRTT   RSRF 2 1 0 2 0 1 0 1 2 1 0 2 0 1 0 1 0 2 1 1 0 0
L100V C298G 7.1 vRTT Trisomy X RSRF 1 0 0 0 0 0 0 0 1 0 2 0 2 0 0 2 0 0 1 1 2 0
W104R T310C 26.6 RTT   RSRF 2 1 2 1 1 2 1 1   1 2 2 2 0 2 2 2 2 0 2 2 2
R106W C316T 3.5 RTT   RSRF   0 2 1 2 2 0 1 2 0 2 1 2 2 2 2 0 1 0 2 2 2
R106W C316T 2.5 RTT   RSRF 1 0 2 1 2 2 1 0 1 1 2 0 2 1 1 1 0 0 0 1 2 0
R106W C316T 2.6 RTT BH 0 2 2 2 2 2 2 1 2 1 2 0 2 2 2 2 0 0 2 2 2 2
R106W C316T 3.8 RTT RSRF 2 1 1 1 0 1 1 0 1 1 1 0 2 2 0 2 0 0 1 0 0 1
R106W C316T 4.6 RTT RSRF 2 2 2 1 2 1 1 1 0 0 1 1 2 2 1 2 0 0 1 1 1 1
R106W C316T       4     0     2             2 2   2   2        
116F/S 345∆1   RTT   37           2         2 2 2                  
125F/S A378-2G   RTT   RSRF 2 1 2 1 0 1 0 0 0 2 0 2 0 0 1 2 0 0 0 1 0 1
125F/S A378-2G       4     2     2             2 2   2   0        
Q128X C382T 3.2 RTT RSRF 1 1 2 1 1 1 1 0 0 1 1 0 2 1 1 2 1 0 0 2 1 1
R133C C397T   vRTT   36     0     0         2   0 2   2   2        
R133C C397T   vRTT   36     2     2         2   2 0   2   2        
R133C C397T 8.3 RTT   RSRF 1 1 0 0 0 1 1 1 0 2 2 1 1 0 0 2 0 0 0 0 0 0
R133C C397T 9.8 RTT   RSRF 2 0 1 2 1 0 1 2 2 0 2 1 2 0 1 2 0 2 0 1 2 1
R133C C397T 9.8 RTT 87:13 RSRF 0 0 0 0 1 0 1 0 1 2 0 0 2 0 0 2 0 1 2 1 0 1
R133C C397T 32.8 RTT RSRF 0 1 0 1 1 0 1 1 2 0 1 0 0 1 2 1 0 0 1 1 1
R133C C397T 8.7 RTT RSRF 1 1 0 2 0 0 0 0 0 2 1 0 2 0 1 2 0 0 0 0 0 1
R133C C397T 11.2 RTT RSRF 1 1 0 1 0 0 0 0 0 0 1 1 1 0 0 1 0 1 0 0 0 1
R133C C397T 4.3 RTT RSRF 1 2 0 0 0 0 0 1 0 1 1 1 1 0 1 2 1 0 0 0 0 0
R133C C397T 5.7 RTT RSRF 2 1 0 1 1 1 0 0 2 0 1 1 2 0 0 2 0 0 0 0 2 0
R133C C397T       4     2     2             0 2   2   2        
S134C C401G 10.7 RTT RSRF 1 1 1 2 0 0 1 0 0 1 1 1 2 0 1 2 0 1 2 0 1 1
S134C C401G       4     2     2             2 2   2   2        
A140V C419T 40 XMR 41 0 0 0 0 2 1 0 0 0 2
A140V C419T 38 XMR 41 0 2 0 0 2 0 0 0 0 2
A140V C419T 32 XMR 41 0 1 0 0 1 1 0 2 0 2 0 0
A140V C419T 27 XMR 41 0 1 0 0 1 1 0 0 0 0
A140V C419T 63 XMR Random 41 0 0 1 0 1 0 0 0 0 0
A140V C419T 42 XMR Random 41 0 1 1 0 1 0 0 0 0 1
Y141X C423G   RTT   36     2     2         2   2 0   2   2        
Y141X C423G 22.4 RTT RSRF 1 1 1 1 1 2 0 0 0 0 1 1 2 0 1 2 2 1 0 2 1 0
151F/S 451∆1   vRTT   36     2     2         2   2 2   2   2        
P152R C455G       4     0     2             2 0   2   2        
P152R C455G 8.0 vRTT RSRF 1 0 0 0 0 0 0 0 0 0 0 2 0 1 1 0 1 1 0 1 0
P152R C455G 3.3 RTT RSRF 0 1 2 1 1 1 1 0 1 2 1 0 2 0 1 2 0 1 0 2 2 2
P152R C455G 7.7 RTT   RSRF 2 0 0 0 0 2 0 1 0 0 2 2 2 0 0 2 2 1 0 2 1 2
D156E C468G   RTT   36     2     2         2   2 0   2   2        
T158A A472G 35.5 RTT   RSRF 0 1 0 1 2 1 1   1 1 2   2 0 1 2 1 2 1 1 1 1
T158M C473T   RTT   36     0     2         2   2 0   2   2        
T158M C473T   RTT   36     1     2         2   2 0   2   0        
T158M C473T   vRTT   36     0               2   2 0   2            
T158M C473T   vRTT   36     2     2         2   2 2   2   2        
T158M C473T  5.0 RTT   RSRF 2 1 1 2 1 0 2 1 1 1 2 0 2 0 0 2 0 0 0 1 2 1
T158M C473T 4.4 RTT   RSRF 1 1 1 1 1 0 0 0 0 0 2 0 2 0 0 1 1 1 0 0 1 0
T158M C473T 3.5 RTT   RSRF 1 1 1 0 1 0 0 1 0 0 2 1 2 0 0 2 0 1 0 0 0 0
T158M C473T 8.9 RTT   RSRF 2 2 0 1 1 2 2 2 2 1 2 1 2 0 1 2 0 2 0 2 2 1
T158M C473T 13.6 RTT   RSRF 1 0 0 1 0 0 0 1 0 1 1 0 2 0 0 1 1 0 1 0 1 1
T158M C473T 11.3 RTT   RSRF 2 2 2 2 2 1 2 2 2 1 2 1 2 0 2 2 1 2 0 1 2 2
T158M C473T       4     0     2             2 0   2   2        
T158M C473T 6.5 vRTT   RSRF 0 0 0 0 0 2 0 0 0 1 1 0 1 0 0 2 0 0 0 0 1 0
T158M C473T 9.1 RTT RSRF 1 0 0 0 2 1 1 0 0 0 1 1 2 0 0 1 0 1 0 0 1 1
T158M C473T 6.6 RTT RSRF 1 1 0 0 0 1 1 0 0 1 1 2 1 1 2 0 0 1 0 1 0
T158M C473T       4     0     2             2 0   2   0        
G161R G481A   RTT   RSRF 2 0 0 2 0 2 1 0 1 2 0 2 1 2 1 2 1 0 0 0 2 1
R168X C502T 3.1 RTT   RSRF 1 1 1 0 1   1 1 1 1 0 0 0 1 0 1 0 0 1 0 1 1
R168X C502T       4     2     2             2 0   2   2        
R168X C502T       4     0     2             2 0   2   0        
R168X C502T 8.3     RSRF 1 0 0 1 0 1 0 0 0 1 2 1 2 0 1 2 1 1 0 1 1 1
R168X C502T 2.2 RTT   RSRF 0 1 2 0 0 0 0 1 0 1 1 0 1 1 0 2 0 0 0 1 1 1
R168X C502T 1.5 RTT RSRF 0 2 0 0 2 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0
R168X C502T 1.9 RTT RSRF 1 1 2 0 1 2 1 1 0 1 1 1 1 1 0 1 0 0 0 1 2 0
R168X C502T 2.6 RTT RSRF 0 0 1 1 0 2 1 0 1 0 2 0 2 1 0 2 0 0 2 1 2 1
R168X C502T       4     0     2             0 0   2   0        
R168X C502T/1136∆7 3.1 RTT RSRF 2 2 2 1 0 2 1 0 1 0 1 0 2 2 1 1 1 2 0 2 2 1
R168X/R294X C502T/C880T 1.9 RTT   RSRF   0 1 0 0 1 1 0 0 0 1 0 1 2 0 1 0 0 0 1 1 0
K177X A529T   RTT   RSRF 2 0 2 1 2 2 2 2 0 2 2 2 2 2 2 0 1 2 0 2 1 1
T197M C590T   RTT   RSRF 2 0 0 2 0 2 1 0 1 2 0 2 1 2 1 2 1 0 0 0 2 1
P225R C674G   vRTT   36     0     0         2   2 0   2   2        
228F/S 682ins1 13.4 RTT   RSRF   0 2 2 2 2 2 0 2 0 2 2 2 0 2 2 2 2 0 2 1 0
235F/S 704ins8   RTT   RSRF 2 0 1 1 2 2 1 2 0 2 0 2 0 0 1 2 1 1 0 0 2 0
Q244X C730T 2.5 RTT RSRF 0 0 0 1 0 1 0 1 1 1 1 0 2 0 0 1 0 0 1 1 0 1
R255X C763T 4.0 RTT   RSRF 1 2 2 1 2 1 0 0 2 0 2 1 2 2 1 2 2 1 0 2 2 2
R255X C763T   RTT   RSRF 2 2 2 2 2 2 1 1 2 0 2 2 2 1 2 2 2 2 0 2 2 2
R255X C763T   RTT   36     2     2         2   2 0   2   0        
R255X C763T   vRTT   36     0               2   0 0   2            
R255X C763T   vRTT   36     0     2         2   2 2   2   0        
R255X C763T   vRTT   36     2               2   2 2   2            
R255X C763T   vRTT   36                     2   2 2   2            
R255X C763T 37.1 RTT   RSRF   1 1 1 1 2 2 1 2 2 2 1 2 0 1 1 1 1 1 2 1 1
R255X C763T       4     2     2             2 0   2   0        
R255X C763T       4     0     2             2 0   2   0        
R255X C763T 6.7 RTT RSRF 1 1 1 2 1 1 1 1 1 2 1 2 0 1 2 0 0 0 1 1 1
R255X C763T 2.0 RTT RSRF 1 1 1 1 0 1 1 1 0 1 2 0 2 1 0 2 0 0 1 1 1 0
R255X C763T 3.1 RTT RSRF 0 0 0 0 0 0 0 0 1 0 1 0 2 0 0 1 0 1 0 0 2 0
R255X C763T 45.4 RTT RSRF 0 2 2 1 2 2 2 0 2 2 1 2 2 0 2 0 1 2 0 2 1 2
R255X C763T 9.2 RTT RSRF 0 1 2 1 1 1 1 1 2 1 2 0 2 2 1 2 1 1 0 1 1 1
R255X(E397K) C763T(G1189A) 13.2 RTT RSRF 2 1 2 2 1 2 2 1 1 0 2 2 2 2 2 2 2 1 0 2 2 2
R255X C763T       4     2     2             2 0   2   2        
Q262X C784T   RTT   RSRF 0 0 0 2 2 1 1 0 0 2 0 2 0 0 1 2 0 0 0 2 1 2
266F/S 796∆1   RTT   RSRF 1 0 2 2 1 1 0 1 0 2 0 2 1 0 1 2 0 0 0 1 1 0
R270X C808T   RTT   36     0     2         2   2 0   2   2        
R270X C808T   RTT   36     0     2         2   2 0   2   2        
R270X C808T   RTT   36     0     2         2   2 0   2   0        
R270X C808T   RTT   36     0     2         2   0 0   2   2        
R270X C808T   RTT   RSRF 2 1 0 2 2 2 2 1 1 2 1 2 0 0 0 2 0 2 0 0 1 0
R270X C808T       4     2     2             2 0   2   2        
R270X C808T       4     2     2             2 0   2   2        
R270X C808T 34.7 RTT   RSRF 1 1 2 1 1 1 2 2 1 1 2 2 2 1 0 2 2 1 0 1 1 0
R270X C808T 3.1 RTT RSRF 0 0 1 0 0 1 1 1 0 1 2 1 2 0 0 2 0 0 0 1 1 1
R270X C808T 2.5 RTT RSRF 2 1 2 0 0 1 1 2 2 2 2 1 2 2 0 2 0 1 0 1 0 2
R270X C808T       4     2     2             2 0   2   2        
285F/S 855∆4 7.5 RTT   RSRF 1 1 1 1 1 1 1 0 2 2 1 1 2 0 1 1 2 1 2 1 0 1
R294X C880T   vRTT   36     0     2         2   2 2   2   2        
R294X C880T 7.4 RTT   RSRF 0 1 0 0 0 0 0 0 1 0 1 0 2 0 0 2 0 0 0 2 1 0
R294X C880T 7.5 RTT   RSRF 0 2 1 2 1 2 2 1 2 0 2 0 2 2 1 2 0 0 0 2 1 0
R294X C880T 10.1 RTT RSRF 1 1 1 1 0 0 1 0 1 2 1 2 2 1 0 2 1 2 0 0 1 0
R294X C880T 5.1 RTT RSRF 1 0 0 0 1 0 0 0 0 0 1 0 2 0 0 2 0 0 0 0 1 0
R294X C880T       4     2     2             2 0   2   2        
∆295-396 881∆289,∆8   RTT   36     2     2         2   2 0   2   2        
299F/S 895∆202   RTT   37       2   2           2 2 0   2   0        
P302A C904G       4     0     2             0 0   2   0        
R306C C916T   vRTT   36     0     0         2   2 0   2   2        
R306C C916T 4.2 RTT RSRF 0 1 1 1 1 1 1 1 0 0 2 1 2 1 2 2 0 0 0 2 1 1
R306C C916T 5.6 RTT RSRF 1 1 1 2 1 1 1 0 2 1 2 2 2 1 2 2 0 1 1 2 1 2
R306C C916T 14.9 RTT RSRF 1 1 1 1 0 1 0 0 1 0 2 2 2 0 1 2 2 0 0 2 1
R306C C916T 13.0 RTT RSRF 1 1 1 0 0 0 0 0 1 0 1 1 2 1 1 1 1 1 1 1 0 0
R306C C916T 5.3 RTT RSRF 2 2 1 2 2 1 1 0 1 2 1 2 2 0 1 2 0 0 2 1 2 2
R306C C916T 13.4 RTT RSRF 1 0 0 0 1 0 0 0 0 1 1 1 1 0 0 1 1 1 0 1 0 0
R306C C916T 6.9 RTT RSRF 1 1 0 2 0 2 0 0 0 0 1 0 2 1 1 2 0 1 0 0 2 0
R306C C916T 4.1 RTT RSRF 2 1 1 2 1 0 1 1 0 0 1 2 2 2 0 2 0 0 1 1 2 2
R306C C916T       4     0     2             2 0   2   2        
R306H G917A 10.7 RTT RSRF 2 0 0 1 0 0 0 0 0 0 1 2 1 0 0 1 2 1 0 0 0 1
E318A A953C   RTT   RSRF 1 1 0 0 0 0 1 0 1 0 0 1 0 1 0 1 0 0 0 0 1 0
P322L C965T       4     2     2             2 0   2   2        
322F/S 966insA 2.9 RTT RSRF 0 1 0 1 2 1 1 0 1 1 1 1 1 1 0 1 0 1 0 1 1 0
330F/S 989ins18∆8   RTT   37                                            
332F/S 996ins2   RTT   37     2     0                   2   2        
∆361-362/393F/S 1161∆6/1180∆26   RTT   RSRF 0 1 1 2 0 0 1 0 1 2 0 2 1 0 1 2 0 0 0 0 2 1
374F/S 1151∆41   RTT   RSRF 1 1 1 1 1 0 1 0 1 2 0 2 0 1 0 2 0 0 1 1 1 1
376F/S 1124∆53   vRTT   36     0     0         2   2 0   2   2        
376F/S 1124∆53   vRTT   37       2   0         0 2 2 2       0        
385F/S 1157∆35 32.4 RTT BH 2 0 1 2 1 1 1 1 2 2 2 2 2 0 2 1 1 1 0 2 2 2
385F/S 1157∆41 3.0 RTT   RSRF 2 1 2 0 1 0 1 0 0 0 2 0 1 1 0 2 0 0 0 1 1 0
385F/S 1157∆41 3.8 RTT RSRF 2 2 0 2 1 1 0 1 0 2 1 1 2 1 1 2 0 1 2 0 0 2
385F/S 1158∆44 13.0 RTT   RSRF 1 0 0 0 1 1 0 0 0 2 2 1 2 0 1 2 1 1 1 0 1 2
385F/S 1157∆44       4     0     2             2 0   2   2        
387F/S 1163∆35       4     0     2             2 0   2   2        
387F/S 1163∆44 10.2 RTT RSRF 1 0 1 2 1 0 1 0 0 2 1 1 1 0 1 1 1 2 1 0 1 2
388F/S 1165∆26-mosaic 13 RTT "random" 40     1 2   0         2 2   0   2   0        
397F/S 1189insA   RTT   36     2     2         2   2 0   2   2        
441F/S 1324∆44 18.7 RTT BH 1 2 2 2 2 1 1 1 2 2 2 2 2 0 1 2 2 2 0 2 1 2
454F/S 1364ins1       4     2     2             2 0   2   2        
X487W A1461G   RTT   RSRF 2 1 2 1 0 2 2 1 1 0 2 1 2 0 0 2 0 2 0 1 2 0

 

Amino Acid Change AA
Base Change BC
Age of a patient (years) Age
Diagnosis DI
X chromosome inactivation XCI
Data source DS
Abnormal EEG AE
Abnormal sleep patterns AS
Ambulatory AM
Breathing irregularities BI
Constipation CO
Decelerating head circum DH
Eating difficulties ED
GI Reflux GF
Growth retardation GR
Irritability/agitation IA
Loss of purposeful hand motions LP
Muscle rigidity/spasticity MR
Non verbal NV
Period of normal development PN
Poor circulation PC
Repetitive hand motions RH
Scoliosis SC
Seizures SE
Self injurious behaviours SI
Small feet SF
Teeth grinding TG
Tremors TR

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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