has material basis in germline mutation in COG4 autosomal dominant disease bone development disease microcephalic osteodysplastic dysplasia, Saul-Wilson type https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/saul_wilson_syndrome MEDGEN:1375647 OMIM:618150 DOID:0111673 MONDO:0019407 UMLS:C4509877 microcephalic osteodysplastic dysplasia, Saul-Wilson type SWILS Saul-Wilson syndrome microcephalic osteodysplastic dysplasia Orphanet:85172 GARD:0016736 icd11.foundation:738688839 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. primordial dwarfism and slender bone disorder