| Metadata | |
|---|---|
| ID | DOID:0111673 |
| Name | Saul-Wilson syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/30290151 |
| Xrefs |
SNOMEDCT_US_2023_03_01:389197004 |
| Subsets |
DO_rare_slim |
| Synonyms |
microcephalic osteodysplastic dysplasia, Saul-Wilson type [EXACT] SWILS [EXACT] |
| Parent Relationships |