In an 18-month-old boy with bilateral iris coloboma, staphyloma, morning glory disc anomaly, macular atrophy, microcephaly, hypotonia, dysplastic auricles and developmental delay, we identified the heterozygous frameshift variant NM_001130145.2:c.1196_1199del, p.(Asp399Valfs*3) in the YAP1-gene. This evidence concerns the gene YAP1 and coloboma of iris.