Table 2.

The twenty most frequent diseases, with their ORPHA code, number seen in the AnDDI-Rares network, number in CEMARA (differential number seen by reference centers of other networks)

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)