has material basis in germline mutation in PIGL CHIME syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6745 https://www.malacards.org/card/coloboma_congenital_heart_disease_ichthyosiform_dermatosis_impaired_intellectual_development_and_ear_anomalies_syndrome CHIME CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. MONDO:0010221 GARD:0000310 congenital disorder of glycosylation due to PIGL deficiency MESH:C536729 Orphanet:3474 neuroectodermal dysplasia, CHIME type UMLS:C1848392 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome Zunich neuroectodermal syndrome OMIM:280000 PIGL-CDG MEDGEN:341214 Zunich-Kaye syndrome CHIME syndrome neuroectodermal syndrome, Zunich type glycosylphosphatidylinositol biosynthesis defect 5 SCTID:720639008 coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome DOID:0112152 multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental anomaly of metabolic origin syndromic dyslipidemia inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ectodermal dysplasia syndrome disorder of visual system cardiogenetic disease