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%) |