Table 2.

Ranking for the candidate disease genes

The novel candidate genes identified in this cohort were ranked from most likely (red) to less (green) based on the scores using the following criteria: a. Genes found in multiple families with similar phenotypes (3 points); b. Interactors/paralogs of the gene showing overlapping features in human (2 points); c. Animal studies of the gene or its interactor/paralogs showing overlapping features (2 points); d. Genomic region associated with the phenotypes (1 point); e. Loss-of-function variant (2 points); f. Predicted deleterious by multiple programs (1 point); g. Rare variants in multiple databases (1 point); h. Expressed in the tissues/organs being affected (1 point). DD/ID: Developmental Delay/Intellectual Disability; ADHD: attention deficit hyperactivity disorder; PFO: Patent foramen ovale; VSD: Ventricular Septal Defect; VUR: Vesicoureteral Reflux; Hom: homozygous; Het: heterozygous; cHet: compound heterozygous; Hem: hemizygous