Table 2 Clinical characteristics of affected individuals from families inconsistent with linkage to AGS2.
| Family/ patient | Ethnicity | Age at presentation | Birth OFC in centiles (gestation in weeks) | Postnatal OFC in centiles (age in months) | Brain calcification | CSF WCC/mm3* (age in months) | IFN‐α IU/ml in CSF/ serum† (age in months) |
|---|---|---|---|---|---|---|---|
| 9/IV:1 | Pakistani | Antenatal | 9th–25th (38) | NR | BG; WM; PV | 63 (2) | NA |
| 10/V:1 | Algerian | Birth | 25th–50th (40) | <<0.4th (132) | BG | 26 (<1) | 60/16 (<1); 90/<10 (2) |
| 10/V:3 | Birth | 9th (40) | <<0.4th (72) | BG | 10 (<1) | 60/30 (<1); 30/24 (3) | |
| 11/IV:1 | Moroccan | 4 months | NR | <<0.4th (72) | BG | 23 (6); 11 (12) | 6/<2 (12) |
| 11/IV:2 | Birth | NR | <<0.4th (36) | BG; WM | 36 (3) | NA | |
| 12/VI:1 | Hungarian | 2 months | NR | Microcephaly (25) | PV | 22 (25) | NA |
| 12/VI:2 | <12 months | NR | Microcephaly (48) | PV | 80 (48) | NA | |
| 13/IV:1 | Pakistani | 6 months | NR | <<3rd | BG | 21 (6) | 32/4 (6) |
| 13/IV:2 | Birth | 50th (40) | NR | BG | NR | 200/9 (birth); NA/18 (3) | |
| 14/IV:1 | Dutch | 8 months | Normal | 3rd (60) | BG | 14 (13) | NA |
| 14/IV:3 | 12 months | Normal | 75th–91st (36) | BG | 550 (30) | NA | |
| 15/IV:2 | Pakistani | 8 months | Normal | 75th–91st (36) | BG | 0 (84) | <2/<2 (84) |
| 15/IV:3 | 6 months | 50th (34) | <0.4th (9) | BG | 4 (11) | 3/<2 (11) | |
| 16/IV:1 | Belgian | 4 months | 25th (38) | NR | BG; PV | 38 (4) | NA |
| 17/IV:1 | Spanish | Birth | <0.4th (37) | <<0.4th (84) | BG | 25 (<1) | NA |
| 17/IV:2 | 1 week | <0.4th (40) | <<0.4th (13) | BG; WM | 52 (1) | 70/NA (1) |
BG, basal ganglia; CSF, cerebrospinal fluid; NA, not analysed; NR, not recorded; OFC, occipito‐frontal circumference; PV, periventricular; WCC, white cell count; WM, white matter.
*Abnormal ⩾5 cells/mm3; †normal levels <2 IU/l.