_:vb50944348 "url:https://www.ncbi.nlm.nih.gov/pubmed/12491225"^^ . _:vb50944348 "url:https://www.ncbi.nlm.nih.gov/pubmed/21032395"^^ . _:vb50944348 . _:vb50944348 . _:vb50944348 . _:vb50944348 . _:vb50944348 . _:vb50944348 "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21."^^ .