When SRS is suspected, doctors will order a molecular genetic test to confirm a mutation in the SMS gene—specifically a "hemizygous loss-of-function... pathogenic variant". However, there are currently no formal criteria for a diagnosis.
Snyder–Robinson syndrome
Cerebral palsy
Nance–Horan syndrome
Prader–Willi syndrome
Shapiro syndrome
Rett syndrome
Zadik–Barak–Levin syndrome
Urban–Rogers–Meyer syndrome