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King Denborough syndrome
Summary
- 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.
- Super Class
- autosomal dominant disease myopathy
External Links
- Disease Ontology
- DOID:0080990
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
