Table 3.

Number of patients in CEMARA for 4 diseases taken as examples (Microdeletion 22q11.2, Williams Syndrome, Cornelia de Lange Syndrome, Rubinstein-Taybi Syndrome), and comparison with the largest cohorts published to date

CEMARA						Largest cohorts in the literature
Orpha_id	Disease	Number of patients in AnDDI-Rares	Number of patients in CEMARA	% of confirmed diagnosis in AnDDI-Rares	% of confirmed diagnosis in CEMARA	Numbers	References
567	Microdeletion 22q11.2	1911	2592	87	88	1393	Homans et al. [20]
904	Williams Syndrome	648	907	85	86	106	Lugo et al. [21]
199	Cornelia de Lange Syndrome	232	360	50	52	486	Mehta et al. [22]
783	Rubinstein-Taybi Syndrome	261	373	73	73	93	Schorry et al. [23]