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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:0006391 | Overtubulated long bones |
| HP:0006442 | Hypoplasia of proximal fibula |
| HP:0008897 | Postnatal growth retardation |
| HP:0009193 | Pseudoepiphyses of the metacarpals |
| HP:0009882 | Short distal phalanx of finger |
| HP:0010049 | Short metacarpal |
| HP:0010580 | Enlarged epiphyses |
| HP:0010743 | Short metatarsal |
| HP:0011220 | Prominent forehead |
