Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Autosomal dominant disease · Bone development disease · Primordial dwarfism and slender bone disorder
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.
This condition has no sub-types.