Term Name: | Saul-Wilson syndrome |
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Synonyms: | microcephalic osteodysplastic dysplasia, Saul-Wilson type, SWILS |
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. |
Ontology: | Human Disease [DOID:0111673] ( DOID:0111673 ) |