Term Name:	axial spondylometaphyseal dysplasia
Synonyms:	SMD axial, SMDAX
Definition:	A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.
Ontology:	Human Disease [DOID:0112299]   ( DOID:0112299 )