A mutation in this gene was reported by Morgan in 1910 in the fruit fly Drosophila melanogaster. In the fly this mutation is characterized by wing anomalies, defective oogenesis, and malformed posterior legs. In humans<unk>  is due to recessive mutation in the DHODH gene.
Miller syndrome
Treacher Collins syndrome
Silver–Russell syndrome
Miller–Dieker syndrome
Crigler–Najjar syndrome
GRACILE syndrome
RAPADILINO syndrome
Diogenes syndrome