CHIME syndrome (Q8075299)
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CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy
- Chime Syndrome
- Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
- COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME
- COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
- Neuroectodermal dysplasia, CHIME type
- PIGL-CDG
- Zunich Neuroectodermal Syndrome
- CHIME
- Congenital disorder of glycosylation due to PIGL deficiency
- Neuroectodermal syndrome, Zunich type
- Zunich-Kaye syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | CHIME syndrome |
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy |
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Wikipedia(5 entries)
- dewiki CHIME-Syndrom
- elwiki Σύνδρομο Ζούνιχ-Καγιέ
- enwiki CHIME syndrome
- rowiki Sindromul Zunich-Kaye
- trwiki Zunich nöroektodermal sendromu