Table 2.
Clinical summary of previously reported adolescent and adult patients with FOXG1 mutations.
| Age | Sex | Mutation type | Microcephaly | Sitting | Walking | Functional hand use | Speech | Social interaction | Seizure | Movement | Others | |
| Arini et al[16] | 22 y | M | c.765G > A p.Trp255X | + | − | − | + | − | − | + | + | Arrhythmic breathing |
| Mencarelli et al[4] | 13 y 2 m | F | c.681C > G; p.Asn227Lys | + | N/A | − | N/A | − | N/A | + | + | Scoliosis |
| Phillipe et al[17] | 22 y | F | c.924A > G p.Trp308X | + | N/A | − | + | − | − | + | + | − |
| Seltzer et al[12] | 16 y 3 m | F | c.460dupG p.Glu154Glyfs∗301 | + | N/A | − | − | − | − | + | + | − |
| 13 y 9 m | M | c.577G > A p.Ala193Thr | + | N/A | − | + | − | + | + | + | − | |
| 25 y 10 m | F | c.460dupG p.Glu154Glyfs∗301 | + | N/A | − | − | − | +/− | + | + | − | |
| 22 y | M | c.460dupG p.Glu154Glyfs∗301 | + | N/A | − | + | − | +/− | + | + | − | |
| Cellini et al[10] | 17 y | F | c.298delC; p.Gln100Serfs∗92 | + | N/A | − | N/A | − | − | + | + | Facial dysmorphism |
| Wong et al[3] | 17.3 y | N/A | c. 250delC p.Gln86Argfs∗106 | + | + | − | N/A | N/A | − | + | + | − |
N/A = not available.