TABLE 2.

Unadjusted and adjusted odds ratios of clinical phenotypes and mixed phenotypes for identification of individuals with a molecular diagnosis.

Phenotype composite index based on the number of systems involved	Crude OR (95% CI)	P-value	Adjusted OR (95% CI)	P-value
Univariate analysis
One system affected
Metabolism/homeostasis	3.3 (1.8, 5.8)	0.0001	2.8(1.5, 5.1)	0.0008
Nervous system	3.7 (1.7, 8.0)	0.0008	3.5(1.6, 7.7)	0.0018
Respiratory system	2.3 (1.3, 4.1)	0.0044	2.5(1.4, 4.5)	0.0032
Congenital anomalies	0.9 (0.5, 1.4)	0.5052	0.9(0.5, 1.4)	0.6028
Immune system	9.3(1.5, 85.2)	0.0001	9.2(1.4, 83.5)	0.0003
Integument	19.8(2.6, 151.5)	0.0041	19.7(2.5, 156.3)	0.0048
Blood and blood-forming tissues	3.3 (1.4, 8.3)	0.0089	3.6(1.4, 9.0)	0.0070
Cholestasis	0.6 (0.2, 1.7)	0.3266	0.7(0.2, 2.0)	0.4624
Cardiovascular system	1.7 (0.6, 4.7)	0.2723	1.6(0.6, 4.4)	0.3526
Multivariate analysis
Two systems affected
Metabolism/homeostasis and nervous system	6.3(1.4, 29.2)	0.0188	4.5(1.0, 21.5)	0.0495
Nervous system and congenital anomalies	4.2(1.1, 15.5)	0.0326	5.0(1.3, 19.1)	0.0176

CI = confidence interval; OR, odds ratio; significance considered when P < 0.05; Adjusted OR for gestation age (GA) and birth weight (BW) of the patient (see additional file: Supplementary Methods, Supplementary Tables S4 and S5). Significant p values are highlighted in bold.