CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder characterized by colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects, including conductive hearing loss. Homozygous and compound heterozygous mutations in PIGL lead to this disorder.
