Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome (CHIME)

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome, also known as chime syndrome, is related to coloboma of macula and brachydactyly, and has symptoms including seizures An important gene associated with Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome is PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and ptosis