Table 1 Comparison of our clinical presentation with that of other patients and their respective reports
Present study | Yilmaz et al. (patient 1) [1] | Yilmaz . (patient 2) [1] | Yilmaz . (patient 3) [1] | Marangi et al. [24] | Mendez et al. [20] | Sun et al. [25] | Shin et al. [19] | |
|---|---|---|---|---|---|---|---|---|
Mutation | c.3147G>A; p.P1049P | c.3147G>A; p.P1049P | c.3147G>A; p.P1049P | c.3147G>A; p.P1049P | c.1045_1049delTTAAA, p.L349Afs*9 | c.4572_4573dup (p.(Thr1525Ilefs*25)) | c.3185del (p.leu1062Argfs*52) | c.5206C>T (p.Gln1736Ter) |
Publication year | − | 2015 | 2015 | 2015 | 2017 | 2020 | 2023 | 2021 |
Country | Iran | Hungary | Portuguese | UK | Italy | Argentina | China | Korea |
Sex | Male | Female | Female | Female | Female | Male | Male | Male |
Speech difficulties/delay | + | + | + | + | + | NA | + | + |
Growth retardation | + | + | + | + | NA | NA | + | + |
Blepharophimosis | + | + | + | + | NA | + | NA | + |
Intellectual impairment | + | + | + | + | + | NA | + | + |
Visual impairment | + | + | + | − | + | + | − | NA |
Heart Defects | + | − | + | NA | − | + | + | + |
Genital anomalies | − | − | − | − | − | + | − | NA |
ASD | + | NA | NA | NA | NA | NA | + | |
Dysmorphic facial feature | + | + | + | + | + | + | + | + |
Skeletal anomalies | + | NA | NA | NA | NA | NA | NA | NA |
Thyroid anomalies | − | + | + | NA | + | NA | NA | + |
Hypotonia | + | + | + | NA | + | + | NA | + |
Reference | − | (1) | (1) | (1) | (2) | (3) | (4) | (5) |