SMC1A Natural History
 
Countries Responses
US 32.20%
CN 26.27%
FR 5.08%
RU 4.24%
GB 4.24%
AU 3.39%
CA 2.54%
AT 1.69%
TR 1.69%
BR 1.69%
BG 1.69%
NL 1.69%
KZ 0.85%
ZA 0.85%
UY 0.85%
UA 0.85%
SE 0.85%
BE 0.85%
PL 0.85%
PH 0.85%
IT 0.85%
IL 0.85%
FI 0.85%
ES 0.85%
EG 0.85%
DE 0.85%
BY 0.85%
CH 0.85%
Total 100.00%
5. [Q2] Patient Gender:
Answer Count Percent
20% 40% 60% 80% 100%
Female 116 98.31%
Male 2 1.69%
Not Sure 0 0%
Other 0 0%
Total 118 100 %
Patient Gender: - Text Data for Other
6. [Q36] Is the Patient diagnosed with the SMC1A variant?
Answer Count Percent
20% 40% 60% 80% 100%
Yes 118 100%
No 0 0%
Not Sure 0 0%
Other 0 0%
Total 118 100 %
Is the Patient diagnosed with the SMC1A variant? - Text Data for Other
10. [Q4] Has the patient ever had seizure(s)?
Answer Count Percent
20% 40% 60% 80% 100%
Yes 98 83.05%
No 17 14.41%
Not Sure 2 1.69%
Other 1 0.85%
Total 118 100 %
Has the patient ever had seizure(s)? - Text Data for Other
03/15/2024 118240371 When she had a fever in December, 2023, she had a convulsion, but it didn't happpen afterwards.
11. [Q35] If yes, when was the First Onset?
Answer Count Percent
20% 40% 60% 80% 100%
0-12 months 58 56.86%
1-2 years 31 30.39%
3-5 years 7 6.86%
6-9 years 2 1.96%
10-14 years 0 0%
15-18 years 0 0%
18+ 0 0%
Not Sure 2 1.96%
Other 2 1.96%
Total 102 100 %
If yes, when was the First Onset? - Text Data for Other
02/27/2026 145321261 2 years
03/15/2024 118240371 We are not sure if it is seizure.
12. [Q6] Are the seizures hard to control?
Answer Count Percent
20% 40% 60% 80% 100%
Yes 73 72.28%
No 7 6.93%
Sometimes  16 15.84%
Not Sure  3 2.97%
Other 2 1.98%
Total 101 100 %
Are the seizures hard to control? - Text Data for Other
03/15/2024 118240371 We are not sure if it is seizure.
03/30/2023 101139936 They were. She died Dec 23, 2015
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