Table 1 Demographic and clinical characteristics of the 501 patients from the Colombian rare genomes project.

From: Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

Cohort characteristics

Total N = 501a

Sex

Male

252 (50%)

Female

249 (50%)

Age

12 (6, 29)

Age of onset symptoms

1 (0, 12)

Age at diagnosis

12 (6, 29)

Age groups

Group 1 (0–6 years)

147 (29%)

Group 2 (6–12 years)

112 (22%)

Group 3 (12–19 years)

81 (16%)

Group 4 (19–45 years)

90 (18%)

Group 5 (45–86 years)

71 (14%)

Parental consanguinity

39 (8.9%)

Family positive history

219 (44%)

HPO terms

5 (3, 6)

Number of taxonomies

2 (2, 3)

Number of genetic studies

1 (0, 2)

Birth area

Andean region

457 (91.2%)

Pacific region

27 (5.4%)

Caribbean region

15 (3%)

Orinoquia region

2 (0.4%)

  1. an (%), median (Q1, Q3).
  2. Pearson’s Chi-squared tests; Fisher’s exact test.
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