This condition is caused by lesions in the BCOR gene located on the short arm of the X chromosome (Xp11.4). This protein encodes the BCL6 corepressor, but little is currently known about its function. The inheritance is X-linked dominant. A genetically related disorder is Lenz microphthalmia syndrome.
Oculofaciocardiodental syndrome
Austrian syndrome
Oculoauricular syndrome
Oculocerebrocutaneous syndrome
Corneal-cerebellar syndrome
Tonic tensor tympani syndrome
Oculocerebrorenal syndrome
Geschwind syndrome