Term Name: Ehlers-Danlos syndrome musculocontractural type 2
Synonyms:
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.
Ontology: Human Disease [DOID:0080737]   ( DOID:0080737 )

Relationships
is a type of: autosomal recessive disease Ehlers-Danlos syndrome