Ehlers-Danlos syndrome kyphoscoliotic type 1 (DOID:0080734)
Alliance: disease page
Alt IDs: OMIM:225400
Definition: An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.