Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, et al. Genet Med. 2021 Apr; 23(4):661-668. Epub 2021 Jan 8.