OBO ID: DOID:0080990
Term Name: King Denborough syndrome Search Ontology:
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:
OTHER King Denborough syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RYR1 King-Denborough syndrome 619542
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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