Both patients 3 and 7 had novel homozygous mutations in AGTPBP1. A gene that was first described by Shashi et al. [33] in 13 individuals from 10 unrelated families with abnormal eye movements, GDD, microcephaly, tongue fasciculation, hypotonia, muscle atrophy, feeding difficulties, and failure to thrive. This evidence concerns the gene AGTPBP1 and Global developmental delay.