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. Author manuscript; available in PMC: 2020 Dec 11.
Published in final edited form as: J Inherit Metab Dis. 2020 Aug 20;43(6):1298–1309. doi: 10.1002/jimd.12298

Table 1.

Demographics and diagnostics within the SUMF1 deficient cohort

Cases: N 35
Cases with clinical records: N (%) 32 (91.4%)
Sex (F): N (%) 15 (42.9%)
Clinical presentation (from n=30)
Average age in years (SD) 0.7 years (± 1.0 years)
Median age in years (range) 0.25 years (0 - 3.5 years)
Survival: Deceased N (from n=8)
Average age in years (SD) 14.9 years (± 11.6 years)
Median age in years (range) 13 years (1.5 – 41 years)
Age at diagnosis (from n=28)
Average age in years (SD) 4.2 years (± 3.7 years)
Median age in years (range) 2.7 years (0.7 - 14 years)

SD = standard deviation