Disease

Ehlers-Danlos syndrome spondylodysplastic type 3

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models