Disorders
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome
Synonym(s): CHIME Syndrome, Zunich Neuroectodermal Syndrome
| Gene | Locus | Protein |
|---|---|---|
| PIGL | 17p12-p11.2 | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase |





