VSX1
Pathology
germline mutations in
- keratoconus type 1 (MIM.148300)
- posterior polymorphous corneal dystrophy (PPCD1) (MIM.122000)
- association wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus