Though only definitively diagnosable by genetic sequence testing, including a G band analysis,<unk>  may be diagnosed from its constellation of symptoms. It must be distinguished from ATR-X syndrome, a very similar disease caused by a mutation on the X chromosome, and cases of alpha-thalassemia that co-occur with intellectual disabilities with no underlying genetic relationship.
ATR-16 syndrome
ATR-X syndrome
MEDNIK syndrome
ZTTK syndrome
Treacher Collins syndrome
LIG4 syndrome
CAMFAK syndrome
Smith Martin Dodd syndrome