Term Name:	CHIME syndrome
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
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.
Ontology:	Human Disease [DOID:0112152]   ( DOID:0112152 )