spondyloepimetaphyseal dysplasia, Genevieve-type (DOID:0080576)
Alliance: disease page
Alt IDs: OMIM:610442, MESH:C535785, ORDO:168454
Definition: A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.