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. 2022 Jun 30;30(9):1083–1087. doi: 10.1038/s41431-022-01137-3

Table 1.

Black and gray symbols denote phenotypic features that have been reported in ≥40% and <40% of patients, respectively.

Phenotypic Feature This Study FLHS locus: Exons 33–34 Proximal to the FLHS locus
Speech delay ✚ ✚ ✚
Seizures ✚ graphic file with name 41431_2022_1137_Taba_HTML.gif graphic file with name 41431_2022_1137_Tabb_HTML.gif
Autism spectrum disorder ✚ ✚
Genitourinary malformations ✚ graphic file with name 41431_2022_1137_Tabc_HTML.gif graphic file with name 41431_2022_1137_Tabd_HTML.gif
Behavioral problems ✚ graphic file with name 41431_2022_1137_Tabe_HTML.gif ✚
Dental issues ✚ ✚
Myopia ✚ graphic file with name 41431_2022_1137_Tabf_HTML.gif ✚
Hypotonia ✚ ✚
Delayed bone age ✚
Short stature ✚

Empty cells indicate that no patient yet reported the features. The FLHS locus column includes patients (n = 63) reported by Le Goff et al., 2013, Nikkel et al., 2013, and Seifert et al., 2014. Variants proximal to FLHS include a subset of patients (n = 28) reported in Rots et al., 2021.