Version: 8.0.0
Date: Tue Jan 28 2025
Ehlers-Danlos syndrome spondylodysplastic type 1
DOID:0080738
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ehlers-Danlos syndrome spondylodysplastic type 1

Definition
An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
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None
Cross References
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