Human genes for brittle cornea syndrome 1
Brittle cornea syndrome 1 [DOID:14775]
An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
Synonyms: brittle cornea syndrome 1, DOID:14775, type VIB Ehlers-Danlos syndrome, type VIB EhlersDanlos syndrome, type VIB Ehlers-Danlos disease ...