Chime disease
WebCHIME syndrome Also known as: 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; PIGL-CDG; Zunich-Kaye syndrome Disease … WebCHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Go To Source: Orphanet Classification Categories: Congenital …
Chime disease
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WebNov 28, 2024 · CHIME syndrome has a genetic component and is present from birth. The main symptoms include coloboma on both sides, wandering dermatosis, seizures, … WebJun 11, 2024 · Cytokine release syndrome (CRS) can cause a variety of symptoms, including fever, headaches, and nausea. The symptoms can become severe quickly. …
WebCHIME syndrome. Also known as: 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; PIGL-CDG; Zunich-Kaye syndrome.
WebMay 21, 2015 · Bendii Syndrome. Pronounced “ben-dye,” Bendii Syndrome is a generative neurological illness that effects a few elderly Vulcans on Next Generation. Besides weakness, fever, and fatigue, victims ... WebJan 16, 2013 · CHIME syndrome is a rare autosomal recessive neuroectodermal syndrome recently identified as a disorder of glycosylation secondary to mutations in …
WebCHIME syndrome Disease definition CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. ORPHA:3474 Classification level: Disorder Synonym (s):
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