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Human Disease

King Denborough syndrome

Term ID
DOID:0080990
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080990 )
Relationships
is a type of
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Genes Involved
Zebrafish Models