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. 2021 Aug 4;16:345. doi: 10.1186/s13023-021-01957-4

Table 1.

Description of the population

Number of patients in the cohort 228,243
Number of affected patients in the cohort 167,361
Median age at endpoint (in years)
 Affected 11 (Q1 = 5; Q3 = 21)
 Unaffected 37 (Q1 = 30; Q3 = 43)
Male to female sex ratio 1.16
Reported death for affected patients 4.8%
Residence (Region)
 Auvergne Rhône Alpes 17,976
 Bourgogne Franche Comte 7,670
 Bretagne 13,701
 Centre Val De Loire 5,094
 Corse 562
 Départements D'Outre-Mer 4,733
 Grand-Est 15,179
 Hauts De France 23,172
 Ile De France 22,362
 Normandie 2,425
 Nouvelle Aquitaine 11,416
 Occitanie 10,150
 Pays De La Loire 12,899
 Provence Alpes Côte D'Azur 13,139
Objective of visit (N = 381,209)
 Diagnosis 55%
 Genetic counseling 31%
 Follow-up/care 36%
 Prenatal diagnosis 9.7%
 Emergency 0.3%
Assertion of diagnosis
 Confirmed 34%
 Likely 11%
 Unlabeled 7%
 Indeterminate 27%
 Ongoing 19%
 Missing 2%
Transmission mode (N = 73,911)
 Autosomal dominant 18,710
 Autosomal recessive 7,911
 Chromosomal 7,284
 X-linked 4,477
 Multi factorial 956
 Mitochondrial 268
 Unknown 34,305
Children Adults
Affected patients were referred by (%)
 Self 4% 16%
 Patient Support Group 0% 1%
 General Practitioner 2% 7%
 Pediatrician 46% 17%
 Other Specialist 17% 34%
 Geneticist 3% 6%
 Gynecologist-Obstetrician 12% 11%
 Centre of maternal and child health 0% 0%
 Support center 6% 3%
 Multidisciplinary diagnosis centre 7% 2%
 Prenatal screening centre 0% 0%
 Other 1% 3%
 Unknown 1% 1%