CHIME syndrome

MONDO:0010221

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

Also known as: CHIME syndrome, PIGL-CDG, Zunich-Kaye syndrome, 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, CHIME

0 clinical trials for this condition and its sub-types, 0 tagged with CHIME syndrome itself.

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↑ Disorder of visual system (3476) ↑ Cardiogenetic disease (614) ↑ Developmental anomaly of metabolic origin (383) ↑ Syndromic dyslipidemia (73) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Ectodermal dysplasia syndrome (45) ↑ Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (0)

Including sub-types (0) Tagged with CHIME syndrome (0)

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