This condition has been associated with mutations in the Spartan gene (SPRTN). This gene is located on the long arm of chromosome 1 (1q42.2). The gene SPRTN encodes the DNA dependent metalloprotease Spartan. Spartan is intimately involved in the repair of protein-linked DNA breaks.
Ruijs-Aalfs syndrome
Helsmoortel-Van der Aa syndrome
Fryns-Aftimos syndrome
Van der Woude syndrome
Van Den Bosch syndrome
Cortes Lacassie syndrome
Vogt–Koyanagi–Harada disease
Van Gogh syndrome