Human genes for Saul-Wilson syndrome
Saul-Wilson syndrome [DOID:0111673]
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 COG4 on chromosome 16q22.1.
Synonyms: Saul-Wilson syndrome, DOID:0111673, SaulWilson syndrome, Saul-Wilson disease, Saul-Wilson disorder ...