For many years the diagnosis of<unk>  was clinical. However, this led to overlaps with syndromes with similar clinical features such as Temple syndrome and 12q14 microdeletion syndrome. In 2017, an international consensus was published – detailing the steps clinicians should take to diagnose<unk> . It is now recommended to test for 11p15 loss of methylation and mUPD7 first. If they are negative, then testing for mUPD16, mUPD20 should take place. Testing for 14q32 should also be considered, to rule out Temple syndrome as a differential diagnosis. If these tests come back inconclusive, then a clinical diagnosis should be made. It is recommended that the Netchine-Harbison clinical scoring system (NH-CSS) is used to group the clinical features together in a point based score.
Silver–Russell syndrome
Miller–Dieker syndrome
Meckel–Gruber syndrome
Laurence–Moon syndrome
Intestinal metabolic bromhidrosis syndrome
Miller syndrome
Nathalie syndrome
Halperin-Birk syndrome