MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctivecerebellar,ocular, craniofacial andgenital features (COFG syndrome)

Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs.A homozygous truncating variant in MAB21L1 has recently been described in a male...