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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:0000407 | Sensorineural hearing impairment |
| HP:0000592 | Blue sclerae |
| HP:0000662 | Nyctalopia |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0000768 | Pectus carinatum |
| HP:0001015 | Prominent superficial veins |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001511 | Intrauterine growth retardation |
