If ATR-X is suspected based on symptoms, diagnosis can be done via Genome testing. If the results are conclusive with<unk> , female members of the same family will often be asked to partake in genome testing to see if anyone else in the family may possess this gene.
ATR-X syndrome
ATR-16 syndrome
MEDNIK syndrome
ZTTK syndrome
LIG4 syndrome
Treacher Collins syndrome
Cockayne syndrome
GAPO syndrome