CHIME syndrome (DOID:0112152)
Alliance: disease page
Synonyms: 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 neuroectodermal syndrome; Zunich-Kaye syndrome
Alt IDs: OMIM:280000, MESH:C536729, ORDO:3474, UMLS_CUI:C1848392
Definition: A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.