This condition is caused by mutations in the ADNP gene. This gene is located on the long arm of chromosome 20 (20q13.13). ADNP has been associated with abnormalities in the autophagy pathway in schizophrenia.
Helsmoortel-Van der Aa syndrome
Cruveilhier–Baumgarten disease
Van Wyk and Grumbach syndrome
Ruijs-Aalfs syndrome
Van Den Bosch syndrome
Van der Woude syndrome
Fryns-Aftimos syndrome
Nezelof syndrome