Version: 8.0.0
Date: Tue Jan 28 2025
Ehlers-Danlos syndrome spondylodysplastic type 2
DOID:0050802
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ehlers-Danlos syndrome spondylodysplastic type 2

Definition
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
  • defective biosynthesis of proteodermatan sulfate
  • Ehlers-Danlos syndrome progeroid type
Cross References
Parent Terms
Child Terms
None
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