CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. The disease is CHIME syndrome (MONDO_0010221). Also known as: PIGL-CDG, Zunich-Kaye syndrome, coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, congenital disorder of glycosylation due to PIGL deficiency, neuroectodermal dysplasia, CHIME type, neuroectodermal syndrome, Zunich type.