RERE and coloboma of iris: Similarly, while heterozygous variants in RERE cause a neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH, MIM 616975) [41,42], one single recurrent in-frame duplication has been reported in three independent individuals sharing a phenotype characterized by a variable combination of choanal atresia, iris coloboma, abnormal external ears, progressive sensorineural hearing loss with cochlear dysplasia, and ID [36,42].