has material basis in germline mutation in NANS spondyloepimetaphyseal dysplasia, Genevieve type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_genevieve_type_2 SEMDG DOID:0080576 OMIM:610442 MESH:C535785 Orphanet:168454 icd11.foundation:1383217537 SEMD Genevieve type SEMD, Geneviève type GARD:0010057 spondyloepimetaphyseal dysplasia Genevieve type MEDGEN:355314 spondyloepimetaphyseal dysplasia, Camera-Genevieve type spondyloepimetaphyseal dysplasia, Genevieve type A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. MONDO:0012495 UMLS:C1864872 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia