Term Name:	Ehlers-Danlos syndrome kyphoscoliotic type 1
Synonyms:
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 and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.
Ontology:	Human Disease [DOID:0080734]   ( DOID:0080734 )