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CHIME syndrome

Also known as: 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; PIGL-CDG; Zunich-Kaye syndrome