Version: 8.0.0
Date: Tue Jan 28 2025
King Denborough syndrome
DOID:0080990
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

King Denborough syndrome

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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