To briefly describe the main variations found in each patient with CNS IDD phenotypes, we highlight that case 1 (18ZC026) harbored four pathogenic, missense variants at PKHD1, TYK2, FRZB, and HNMT genes, in addition to the haplotype DRB3*02:02-DQA1*05:01, associated with susceptibility to Graves' disease (Chen et al., 2000), and DQA1*05:01-DQB1*02:01-DRB1*03:01 haplotype, associated with risk of NMOSD (Zéphir et al., 2009; Brum et al., 2010; Deschamps et al., 2011) (Table 3, Supplementary Table 2). Here, PKHD1 is linked to Graves disease.