Table 2.
Frequencies of the main clinical features of all individuals (study and literature) according to the variant type.
| Variants | Truncating | Missense | In-frame deletion | CNV | Total | Total in percentage |
|---|---|---|---|---|---|---|
| Number and gender of individuals | 11M/12F | 8M/4F | 1F | 2M | 21M/17F | |
| Mean age at last follow-up | 11 years | 9 years | 3 years | 9.5 years | 10 years | |
| Growth parameters | ||||||
| IUGR (birth weight ≤ 10th per) | 3/18 | 3/6 | 1/1 | 1/2 | 8/27 | 30% |
| Short stature (length ≤ −2 SD) | 2/19 | 3/7 | 0/1 | 1/2 | 6/28 | 21% |
| Tall stature (length ≥ −2 SD) | 4/19 | 0/7 | 0/1 | 0/2 | 4/28 | 14% |
| Microcephaly (OFC ≤ −3 SD) | 4/21 | 0/7 | 0/1 | 1/2 | 5/31 | 16% |
| DD/ID | 23/23 | 12/12 | 1/1 | 2/2 | 38/38 | 100% |
| Mild | 1/23 | 2/12 | 0/1 | 0/2 | 3/38 | 8% |
| Moderate | 6/23 | 3/12 | 0/1 | 1/2 | 10/38 | 26% |
| Severe | 16/23 | 5/12 | 1/1 | 1/2 | 23/38 | 61% |
| NA | 0/23 | 2/12 | 0/1 | 0/2 | 2/38 | 5% |
| ASD | 18/23 | 9/12 | 1/1 | 1/2 | 29/38 | 76% |
| Behavior disorders | 19/23 | 7/8 | 1/1 | 2/2 | 29/34 | 85% |
| Neurological features | 20/23 | 7/9 | 1/1 | 1/2 | 29/35 | 83% |
| Hypotonia | 15/23 | 3/9 | 0/1 | 0/2 | 18/35 | 51% |
| FMD | 12/23 | 3/9 | 0/1 | 1/2 | 16/35 | 46% |
| Abnormal movements | 4/23 | 2/9 | 0/1 | 1/2 | 7/35 | 20% |
| Epilepsy | 2/23 | 4/9 | 0/1 | 0/2 | 6/35 | 17% |
| Brain MRI anomalies | 10/25 | 3/7 | ND | 0/1 | 13/33 | 39% |
| EEG anomalies | 5/15 | 4/4 | ND | 1/1 | 10/20 | 50% |
| Facial particularities | 13/21 | 5/7 | 1/1 | 2/2 | 21/31 | 68% |
| Skeletal anomalies | 11/22 | 4/7 | 1/1 | 2/2 | 18/32 | 56% |
| Feeding difficulties | 6/23 | 0/8 | 0/1 | 0/2 | 6/34 | 18% |
| Constipation | 6/21 | 2/7 | 0/1 | 0/2 | 8/31 | 26% |
Only one facial particularity was needed for the sign to be counted.
ASD autism spectrum disorders, CNV copy number variation, DD developmental delay, FMD fine motor delay, ID intellectual deficiency, IUGR intrauterine growth retardation, ND not done.