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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:0001875 | Neutropenia |
| HP:0002119 | Ventriculomegaly |
| HP:0002176 | Spinal cord compression |
| HP:0002673 | Coxa valga |
| HP:0003015 | Flared metaphysis |
| HP:0003067 | Madelung deformity |
| HP:0003301 | Irregular vertebral endplates |
| HP:0003396 | Syringomyelia |
| HP:0003577 | Congenital onset |
| HP:0005328 | Progeroid facial appearance |
