<unk>  is a very rare genetic disorder first described by<unk>  et al. in 1994. It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect. The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2). A congenital diaphragmatic hernia is consistent with chromosome 1q41-q42 deletion syndrome, and the report by<unk>  et al. suggested that genes involved in the translocation may be important for the development of morphological characteristics, especially those of the eye or heart.
Smith Martin Dodd syndrome
Kaufman oculocerebrofacial syndrome
Daentl Townsend Siegel syndrome
ATR-16 syndrome
Foster Kennedy syndrome
ATR-X syndrome
Smith–Magenis syndrome
Ring chromosome 14 syndrome