Human genes for Ehlers-Danlos syndrome spondylodysplastic type 2
Ehlers-Danlos syndrome spondylodysplastic type 2 [DOID:0050802]
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
Synonyms: Ehlers-Danlos syndrome spondylodysplastic type 2, DOID:0050802, EhlersDanlos syndrome spondylodysplastic type 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, Ehlers-Danlos syndrome progeroid type ...
Linkouts: OMIM