Version: 8.0.0
Date: Tue Jan 28 2025
Ehlers-Danlos syndrome musculocontractural type 2
DOID:0080737
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ehlers-Danlos syndrome musculocontractural type 2

Definition
An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
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