Ehlers-Danlos syndrome spondylodysplastic type 3

Term ID

DOID:0080739

Synonyms

Definition

An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. https://pubmed.ncbi.nlm.nih.gov/18513683/

References

• OMIM:612350

Ontology

Human Disease   ( DOID:0080739 )