Term Name:	Ehlers-Danlos syndrome kyphoscoliotic type 2
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.
Ontology:	Human Disease [DOID:0080735]   ( DOID:0080735 )