Table IV.
Subjects | Diagnostic genetics | Sex | Age at time of study, y |
---|---|---|---|
DB12-001 | FOXG1 c.651C>G/p.Y217X | M | 4.5 |
DB12-002 | FOXG1 p.Gln86X | F | 4.9 |
DB12-004 | 1.1 Mb del 14q12 (FOXG1) | F | 3.6 |
DB12-005 | FOXG1 c.430G>T, p.E144X | M | 9.5 |
DB12-006 | FOXG1 c.460dupG/p.Glu154GlyfsX301 | M | 6.3 |
DB12-009 | FOXG1 c.460dupG/p.Glu154GlyfsX301 | F | 16.25 |
DB12-015 | FOXG1 c.133_469del377insACCCACCGCCCC | M | 6.9 |
DB12-016 | FOXG1 c.577G>A/p.Ala193Thr | M | 13.75 |
DB12-017a1 | FOXG1 c.515_517del63/p.Gly172_Met192del | F | 9.6 |
DB12-017a2 | FOXG1 c.515_517del63/p.Gly172_Met192del | F | 6.8 |
DB13-006 | FOXG1 c.506delG | M | 3.9 |
DB13-007 | FOXG1 c.586C>T/p.Gln196X | M | 3.6 |
DB13-012 | FOXG1 c.755G>T/p.Gly252Val | F | 6.5 |
DB13-019 | 4.1 Mb del 14q12 (FOXG1) | M | 10 |
DB13-028 | FOXG1 c.735delC | M | 5.6 |
DB13-029a1 | FOXG1 c.460dupG/p.Glu154GlyfsX301 | F | 25.8 |
DB13-029a2 | FOXG1 c.460dupG/p.Glu154GlyfsX301 | M | 22 |
DB13-041 | FOXG1 c.222_223dupGC/p.Pro75ArgfsX118 | M | 8 |
DB13-052a1 | FOXG1 c.460dupG/p.Glu154GlyfsX301 | F | 5 |
DB13-052a2 | FOXG1 c.460dupG/p.Glu154GlyfsX301 | F | 5 |
DB13-042 | MECP2 c.808C>T/p.R270X | F | 31 |
DB13-044 | MECP2 p.R294X | F | 8.6 |
DB13-050 | MECP2 c.1163_1188del26/p.P388fs | F | 8.5 |
DB13-058 | MECP2 p.R255X | F | 28 |
DB13-059 | MECP2 c.916C>T, p.R306C | F | 4.25 |
DB13-060 | MECP2 p.R255X | F | 20 |
DB14-011 | MECP2 p.R255X | F | 15 |
DB14-012 | MECP2 p.R255X | F | 26 |
DB14-023 | MECP2 del exons 3-4 | F | 5.9 |
DB14-025 | MECP2 p.R133C | F | 6 |
DB14-027 | MECP2 del exon 4 | F | 9 |
F, female; M, male.