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 microcephaly.