Saul-Wilson syndrome (DOID:0111673)
Alliance: disease page
Synonyms: microcephalic osteodysplastic dysplasia, Saul-Wilson type; SWILS
Alt IDs: OMIM:618150, ORDO:85172, UMLS_CUI:C1300285
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.