Table 2.
Comparison of clinical presentation in this study and in the published cohort
| Clinical features | Number of subjects in this study* | Percentage in this study | Number of subjects in the published cohorts (Schafgen et al. [14]; Babbs et al. [6]; Lelieveld et al. [15]; McRae et al. [16]**) |
Percentage in the published cohort |
|---|---|---|---|---|
| ID | 24/32 | 75 | 8/12 | 67 |
| Neurobehavioral abnormalities | 21/32 | 66 | 7/12 | 58 |
| Dysmorphic facial features | 25/32 | 78 | 4/12 | 33 |
| Sleep disturbance | 12/32 | 38 | NR | NR |
| Macrocephaly | 8/32 | 25 | 3/12 | 25 |
| Overgrowth/obesity/tall stature | 9/32 | 28 | 2/12 | 17 |
| Digital anomalies | 11/32 | 34 | 1/12 | 8 |
| Seizures | 8/32 | 25 | 1/12 | 8 |
| Motor delay | 30/32 | 94 | 5/12 | 42 |
| Hypotonia | 21/32 | 66 | 3/12 | 25 |
| Movement disorder | 14/32 | 44 | NR | NR |
| Language delay | 28/32 | 86 | 5/12 | 42 |
| Structural brain abnormalities | 7/32 | 22 | 2/12 | 17 |
Abbreviations: ID intellectual disability, NR not reported
*Five patients from the original McRae et al. DDD cohort [16] (individual #2, #8, #10, #19, and #26) were included in this study
**Two additional patients from this study were included in the meta-analysis from previous studies