OBO ID: DOID:0080990 |
Term Name: | King Denborough syndrome | Search Ontology: | |
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Definition: | A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1146/ | ||
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Ontology: | Human Disease ( DOID:0080990 ) |
OTHER King Denborough syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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