SMAD4 and Global developmental delay: This includes the transcription factors PBX1 (congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; OMIM #617641), SMAD4 (Myhre syndrome; OMIM #139210) and SALL4 (Duane-radial ray syndrome; OMIM #607323) (Supplementary Table 4).26 Common features of these disorders comprise developmental delay, asymmetric facial features and organ malformations.