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Saul-Wilson syndrome
Summary
- Synonym
-
- SWILS
- microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Definition
- A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.
- Super Class
- autosomal dominant disease bone development disease
External Links
- Disease Ontology
- DOID:0111673
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004582 | Irregularity of vertebral bodies |
| HP:0000518 | Cataract |
| HP:0011833 | Overhanging nasal tip |
| HP:0000926 | Platyspondyly |
| HP:0000444 | Convex nasal ridge |
| HP:0004279 | Short palm |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000260 | Wide anterior fontanel |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
