Table 1:

Exposures and Outcomes.

A) Exposure (independent variables)	B) Outcome (dependent variables)
1. Gene  Genes with <10 patients were pooled as Others: FANCE (2 patients), F (7), L (5), M (2), Q (4), R (1), S (1), T (4), U (1), V (1), and W (1).	1. At least one abnormality of any type
	2. Specific congenital abnormalities
2. Location in the FA/BRCA DNA repair pathway  Upstream (FANCA, B, C, E, F, G, L, M, and T)  ID (D2 and I)  Downstream (D1, J, N, O, P, Q, R, S, U, V, and W)	3. VACTERL-H, ≥3 of 8 features  Vertebral anomalies  Anal anomalies  Cardiac structural anomalies  Tracheal-esophageal fistula  Esophageal or duodenal atresia  Renal malformations  Upper Limb anomalies (radial ray)  Hydrocephalus
3. Type of pathogenic variant  Null: no protein production (null allele + null allele or FANCB or R null allele)  Hypomorphic: some protein production (null allele + hypomorphic allele, both alleles hypomorphic, or FANCB or R hypomorphic allele)	4. PHENOS, ≥4 of 6 features  Pigmentation anomalies, including café au lait macules  Small Head circumference  Small Eyes  Central Nervous system structural anomalies  Otological alterations, structural and/or hearing loss  Short stature
A) Bold means different categories	B) Bold means the letter in the acronym