DISEASES

Disease-gene associations mined from literature

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