Table 2 Extra-hematological features.
ID | Geographic region | Consanguineous parents | Sex | Birth’s week | Weight at birth (g) | IUGR /SGA | Growth retardation /small stature | Dysmorphic features | DD/cognitive impairment | Autoimmune manifestation (y) | Follow-up (age in years) |
|---|---|---|---|---|---|---|---|---|---|---|---|
P1.1 | HU | Yes | F | 38 | 1490 | + | + | Low-set and posteriorly rotated ears; prominent forehead with high hair line, mild hypertelorism | Speech and walking delay | − | Alive (1.9) |
P1.2 | HU | Yes | F | 40 | 2280 | + | + | Same than P1.1 | Same than P1.1 | − | Alive (0.7) |
P2.1 | ITA | Yes | F | 36 | 2000 | + | + | − | Speech and walking delay, no cognitive impairment | Multiple sclerosis (9) Diabetes mellitus (10) | Alive (14.4) |
P4.1 | CAN | Unknown (parents from the same indigenous reserve) | M | 33 | 1490 | + | − | Absence of one finger in the right hand | Speech delay | − | Alive (5.0) |
P5.1 | EGY | Yes | F | 40 | 1800 | + | + | Microcephaly | Speech and walking delay | − | Alive (1.7) |
P6.1 | GBR | Unknown | M | 40 | 2010 | + | + | Microcephaly | Mild global developmental delay and cognitive impairment | Autoimmune hypothyroidism (10) Localized scleroderma (11) | Alive (15.0) |
P8.1 | MYS | Unknown | F | 40 | 1400 | + | + | − | Severe cognitive impairment, autism | − | Alive (4.0) |
P9.1 | GTM | Unknown | F | No data | No data | No data | − | − | − | Lost to follow-up | |
P3.1 | PRT | No | M | 39 | 3570 | − | − | − | − | − | Alive (12.0) |
P7.1 | GBR | No | M | 42 | 2700 | + | − | − | − | − | Alive (34.0) |
