This syndrome is caused by inactivating mutations in the xylosyltransferase (XYLT2) gene. It is inherited in an autosomal recessive manner.
Spondylo-ocular syndrome
Oculoauricular syndrome
Diabetic cheiroarthropathy
Genitopatellar syndrome
Migraine-associated vertigo
Ocular myasthenia
Orbital apex syndrome
Labyrinthitis