CHIME syndrome

MONDO:0010221

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

Also known as: CHIME syndrome, 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, CHIME

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