Entry H01487 Disease Name CHIME syndrome; Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; Zunich neuroectodermal syndrome Supergrp Inherited glycosylphosphatidylinositol deficiencies [DS:H01489] Description CHIME syndrome (coloboma, congenital heart[…]
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