King Denborough syndrome
Information
- Disease name
- King Denborough syndrome
- Disease ID
- DOID:0080990
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1146/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:423
- Cross Reference ID (Disease Ontology)
- GARD:8433
- Cross Reference ID (Disease Ontology)
- MESH:C536883
- Cross Reference ID (Disease Ontology)
- MIM:619542
- Cross Reference ID (Disease Ontology)
- ORDO:99741