In our cohort, patient 6 shows a proximal deletion not involving the ANKRD11 gene and including only ZFPM1. His phenotype includes: perinatal asphyxia, normal cognitive level, speech delay, no structural anomalies in brain development, normal height and OFC, absent facial dysmorphisms, neonatal transient thrombocytopenia, VSD and severe astigmatism. Here, ZFPM1 is linked to Astigmatism.