Orpha_Code | Disease | Number of patients in the_AnDDI-Rares network | Total number of patients in the CEMARA database | % of confirmed diagnosis in AnDDI-rares | % of probable diagnosis | Median age at diagnostic in months (with IQR) | |
---|---|---|---|---|---|---|---|
870 | Trisomy 21 | 3512 | 4459 | 94 | 4 | 0 | (6) |
636 | Neurofibromatosis type 1 | 2943 | 5673 | 68 | 23 | 36 | (113) |
558 | Marfan Syndrome | 2848 | 3487 | 33 | 38 | 180 | (288) |
567 | 22q11.2 microdélétion syndrome | 2009 | 2592 | 87 | 6 | 7 | (72) |
908 | Fragile X syndrome | 1580 | 2339 | 85 | 5 | 132 | (330) |
648 | Noonan syndrome | 1374 | 1703 | 61 | 26 | 24 | (128) |
98249 | Ehlers-Danlos syndrome | 1120 | 1980 | 22 | 62 | 216 | (300) |
805 | Tuberous sclerosis | 1046 | 1813 | 69 | 22 | 12 | (138) |
881 | Turner syndrome | 993 | 3923 | 92 | 4 | -6 | (102) |
666 | Osteogenesis imperfeceta | 766 | 2487 | 53 | 32 | 0 | (36) |
484 | Klinefelter syndrome | 762 | 1450 | 96 | 1 | 0 | (246) |
273 | Myotonic dystrophy type 1 | 682 | 4910 | 84 | 9 | 276 | (372) |
904 | Williams syndrome | 681 | 907 | 86 | 8 | 21 | (42) |
116 | Beckwith-Wiedemann syndrome | 639 | 1090 | 62 | 23 | 0 | (7) |
3380 | Trisomy18 | 554 | 618 | 93 | 4 | − 6 | (0) |
1991 | Labial cleft with or without palatine cleft | 510 | 2374 | 74 | 14 | − 6 | (6) |
718 | Isolated Pierre Robin syndrome | 412 | 1799 | 52 | 26 | 0 | (0) |
1906 | Valproate embryofoetopathie | 408 | 458 | 23 | 72 | 72 | (128) |
83330 | Spinal muscular atrophy type 1 | 408 | 1438 | 82 | 5 | 276 | (377) |
374 | Goldenhar syndrome | 405 | 773 | 32 | 49 | 0 | (6.5) |