SMC1A Natural History
 
Countries Responses
US 32.76%
CN 26.72%
FR 5.17%
GB 4.31%
AU 3.45%
RU 3.45%
CA 2.59%
AT 1.72%
TR 1.72%
BG 1.72%
NL 1.72%
KZ 0.86%
ZA 0.86%
UY 0.86%
UA 0.86%
SE 0.86%
BE 0.86%
PL 0.86%
PH 0.86%
IT 0.86%
IL 0.86%
BR 0.86%
FI 0.86%
ES 0.86%
EG 0.86%
DE 0.86%
BY 0.86%
CH 0.86%
Total 100.00%
5. Patient Gender:
Answer Count Percent
20% 40% 60% 80% 100%
Female 114 98.28%
Male 2 1.72%
Not Sure 0 0%
Other 0 0%
Total 116 100 %
Patient Gender: - Text Data for Other
6. Is the Patient diagnosed with the SMC1A variant?
Answer Count Percent
20% 40% 60% 80% 100%
Yes 116 100%
No 0 0%
Not Sure 0 0%
Other 0 0%
Total 116 100 %
Is the Patient diagnosed with the SMC1A variant? - Text Data for Other
10. Has the patient ever had seizure(s)?
Answer Count Percent
20% 40% 60% 80% 100%
Yes 97 83.62%
No 16 13.79%
Not Sure 2 1.72%
Other 1 0.86%
Total 116 100 %
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. If yes, when was the First Onset?
Answer Count Percent
20% 40% 60% 80% 100%
0-12 months 56 56%
1-2 years 31 31%
3-5 years 7 7%
6-9 years 2 2%
10-14 years 0 0%
15-18 years 0 0%
18+ 0 0%
Not Sure 2 2%
Other 2 2%
Total 100 100 %
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. Are the seizures hard to control?
Answer Count Percent
20% 40% 60% 80% 100%
Yes 73 73%
No 7 7%
Sometimes  15 15%
Not Sure  3 3%
Other 2 2%
Total 100 100 %
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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