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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:0001762 | Talipes equinovarus |
| HP:0200055 | Small hand |
| HP:0000446 | Narrow nasal bridge |
| HP:0004322 | Short stature |
| HP:0000272 | Malar flattening |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand |
| HP:0000520 | Proptosis |
| HP:0000252 | Microcephaly |
| HP:0002007 | Frontal bossing |
