Case ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Diagnosis | CSS | CSS | A-ID | CSS | CSS | CSS | CSS | CSS | CSS | CSS | CSS | NCBRS |
Sex | F | F | M | F | M | M | F | F | F | M | F | M |
Age at initial visit | 18 months | 11 months | 6 months | At birth | 8 months | At birth | 2 years | 19 days | 78 days | 4 months | 1 months | 22 months |
Reason of genetic testing | DD | DD | DD | DD | DD | DD, CNS anomaly | DD | DD | DD, epilepsy | DD | DD, short stature | DD, epilepsy |
Age at diagnosis (year) | 3 | 3 | 2 | 3 | 5 | 3 | 2 | 5 | 7 | 11 months | 5 | 3 |
Current age (year) | 3 | 6 | 3 | 4 | 6 | 3 | 3 | 6 | 8 | 1 | 15 | 3 |
GA at birth (weeks) | 38 | 39 | 41 | 38 | 38 | 38 | 37 | 39 | 37 | 37 | 41 | 37 |
Birth weight (kg) | 2.7 | 2.92 | 2.73 | 2.13 | 2.2 | 2.48 | 2.9 | 2.61 | 2.11 | 2.28 | 2.5 | 2.9 |
SGA | No | No | Yes | Yes | Yes | Yes | No | No | Yes | Yes | Yes | No |
Perinatal event | OH | No | No | OH | TTN | No | No | No | Seizure | TTN | No | No |
Current height (SDS) | − 1.33 | 0.37 | − 1.13 | − 2.8 | − 3.02 | − 3.51 | 0.21 | − 2.72 | − 2.17 | − 3.57 | − 1.97 | − 0.01 |
Current weight (SDS) | − 0.16 | − 0.27 | − 0.62 | − 2.49 | − 2.19 | − 2.96 | − 0.45 | − 2.32 | − 3.1 | − 4.06 | − 1.59 | 0.24 |
Short stature | No | No | No | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes (GH) | No |