Microcephalic osteodysplastic dysplasia, Saul-Wilson type

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.

Also known as: SWILS, Saul-Wilson syndrome, microcephalic osteodysplastic dysplasia, microcephalic osteodysplastic dysplasia, Saul-Wilson type

36 clinical trials for this condition and its sub-types.