Figure S8 shows Sanger sequencing-based confirmation of this mutation. Thus, the deletion uncovered a loss of function allele of NDE1, resulting in an autosomal recessive phenotype resembling the severe microcephaly syndrome associated with homozygous mutations of NDE1[51], [52]. We concurrently published a separate detailed study involving this particular patient shortly after this finding from the current CNV study [53]. The gene discussed is NDE1; the disease is microcephaly.