The gene responsible for this disorder is DHODH located at chromosome 16q22. This gene encodes an enzyme – dihydroorotate dehydrogenase – which catalyses the ubiquinone-mediated oxidation of dihydroorotate to orotate, the fourth enzymatic step in de novo pyrimidine biosynthesis. The protein is normally located on the outer surface of the inner mitochondrial membrane.
Miller syndrome
Treacher Collins syndrome
Silver–Russell syndrome
Miller–Dieker syndrome
Crigler–Najjar syndrome
GRACILE syndrome
RAPADILINO syndrome
Diogenes syndrome