CELF4 and Menkes disease: These included genes repeatedly highlighted in previous studies due to their strong evidence of association and biological relevance in MD: NEGR1, DRD2, CELF4, LRFN5, TMEM161B and TMEM106B. Cadherin-9 (CDH9) and protocadherins (PCDHA1, PCDHA2 and PCDHA3) were also among the high-confidence genes (Supplementary Table 12).