Term Name: Saul-Wilson syndrome
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.
Ontology: Human Disease [DOID:0111673]   ( DOID:0111673 )

Relationships
is a type of: autosomal dominant disease bone development disease