| Metadata | |
|---|---|
| ID | DOID:0080990 |
| Name | 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. https://www.ncbi.nlm.nih.gov/books/NBK1146/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619542 exactMatch MESH:C536883 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |