Term Name:	spondyloepimetaphyseal dysplasia, Genevieve-type
Synonyms:
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.
Ontology:	Human Disease [DOID:0080576]   ( DOID:0080576 )