_:vb50945251 . _:vb50945251 "url:https://www.ncbi.nlm.nih.gov/pubmed/30290151"^^ . _:vb50945251 . _:vb50945251 . _:vb50945251 . _:vb50945251 . _:vb50945251 "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."^^ .