Saul-Wilson syndrome

Term ID

DOID:0111673

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. https://www.ncbi.nlm.nih.gov/pubmed/30290151

References

• OMIM:618150
• ORDO:85172
• SNOMEDCT_US_2023_03_01:389197004
• UMLS_CUI:C1300285

Ontology

Human Disease   ( DOID:0111673 )