Table 2 Major clinical findings reported in patients with c.2608 G > A, p (Gly870Ser) mutation in SETBP1 gene
| Present case | patient 1 (Hoischen et al., 2010 [2]) | patient 2 (Suphapeetiporn et al., 2011 [5]) | patient 3 (Suphapeetiporn et al., 2011 [5]) | patient 4 (Ko et al., 2013 [4]) | patient 5 (Herenger et al., 2015 [9]) | patient 6 (Herenger et al., 2015 [9]) | |
|---|---|---|---|---|---|---|---|
| Gender | Male | Female | Male | Male | Male | Male | Male |
| Age | 4-day-old | NA | 1-month-old | 1-month-old | 3-month-old | 6-years-old | 15-years-old |
| Developmental delay | + | + | + | + | + | + | + |
| Seizures | + | + | + | + | + | + | + |
| Vision impairment | – | + | – | NA | + | + | + |
| Ventriculomegaly | + | NA | + | + | + | + | + |
| Abnormal pattern of myelination | – | – | + | – | – | – | – |
| Hearing impairment | + | + | + | NA | + | + | + |
| Typical craniofacial features | + | + | + | + | + | + | + |
| Genital anomalies | + | + | + | + | + | + | + |
| Hydronephrosis or vesicoureteral reflux | – | + | + | + | + | + | + |
| Cardiac defect | + | + | NA | – | – | – | – |
| Characteristic skeletal malformation | + | + | + | + | + | + | + |
| Feeding problems | + | – | – | – | + | – | – |