This disease is caused by mutations in the transmembrane and coiled-coil domain-containing protein<unk>  (TMCO1) on the long arm of chromosome<unk> .
Pascual-Castroviejo syndrome type 1
Arakawa's syndrome II
Bogart–Bacall syndrome
Gómez–López-Hernández syndrome
McGillivray syndrome
Larsen syndrome
Michels Caskey syndrome
Havana syndrome