spondyloepimetaphyseal dysplasia, Genevieve-type

Term ID

DOID:0080576

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. https://www.ncbi.nlm.nih.gov/pubmed/27213289

References

• GARD:10057
• MESH:C535785
• MIM:610442
• ORDO:168454

Ontology

Human Disease   ( DOID:0080576 )