Loss-of-function mutations in microphthalmia-inducing transcription factor (MITF) cause a similar macrocephaly-associated syndrome known as COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; MIM: 617306).31 The gene discussed is MITF; the disease is coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.