This condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion. The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 (3q29) on the Crick (minus strand).
RIDDLE syndrome
Kearns–Sayre syndrome
McGillivray syndrome
HAIR-AN syndrome
Bogart–Bacall syndrome
Witteveen–Kolk syndrome
CLOVES syndrome
RAPADILINO syndrome