label: microcephalic osteodysplastic dysplasia, Saul-Wilson type
label_lc: microcephalic osteodysplastic dysplasia, saul-wilson type
description: "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."