NR3C2 and hyperinsulinemic hypoglycemia, familial, 4: For example, Wilson’s disease (ATP7B, MIM *606882, #277900), cystinosis (CTNS, MIM *606272, #219800 #219900, #219750), and adenosine deaminase 1 deficiency (ADA, MIM *608958, #102700) were included since the project and core teams felt experienced enough to assess their treatability, while the combined project and core team felt less secure about chylomicron retention disease (SAR1B, MIM *607690, #246700) and mineralocorticoid receptor deficiency (NR3C2, MIM *600983, #605115, #177735).