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. 2022 Apr 7;30(Suppl 1):88–608. doi: 10.1038/s41431-021-01026-1
SRS-compatible Non-SRS Non-SRS with microcephaly Total
n = 148 n = 94 n = 7 n = 249
Genetic causes of SRS 45 (30.4%) 13 (13.8%) 0
H19LOM 38 9 0 47 58/249 (23.3%)
UPD(7)mat 7 4 0 11
Imprinting disorders other than H19LOM and UPD(7)mat 21 (14.2%) 7 (7.4%) 1 (14.3%)
Temple syndrome 8 3 11 29/249 (11.6%)
UPD(20)mat 4 1 5
UPD(6)mat 1 2 3
Prader-Willi syndrome 2 1 3
11p15 maternal duplication 2 1 3
UPD(16)mat 2 2
Parthenogenesis 1 1
UPD(11)mat mosaic 1 1
Unknown 82 (55.4%) 74 (78.7%) 6 (85.7%) 162/249 (65.1%)