Table 1.
Summary of the clinical features of ZNF292 mutation-positive individuals (N=28)
| Feature | Present | Absent | ND |
|---|---|---|---|
| Neurodevelopmental features | |||
| ID/DD | 27 (96 %) | 1 (4%) | 0 (0%) |
| Speech delays | 26 (93%) | 1 (4%) | 1 (4%) |
| ASD | 17 (61%) | 10 (36%) | 1 (4%) |
| ADHD | 9 (32%) | 18 (64%) | 1 (4%) |
| Tone abnormalities | 13 (46%) | 10 (36%) | 5 (18%) |
| Brain MRI abnormalities | 9 (32%) | 8 (29%) | 11 (39%) |
| Epilepsy | 3 (11%) | 23 (82%) | 2 (7%) |
| Other features | |||
| Dysmorphic features | 13 (46%) | 13 (47%) | 2 (7%) |
| Ocular features | 9 (32%) | 17 (61%) | 2 (7%) |
| Growth failure (weight/height <2 SD) | 11 (39%) | 15 (54%) | 2 (7%) |
| Microcephaly (OFC <2SD) | 4 (14%) | 24 (86%) | 0 (0%) |
| Feeding issues | 8 (29%) | 18 (64%) | 2 (7%) |
| Constipation | 6 (21%) | 20 (71%) | 2 (7%) |
| Skfigeletal abnormalities | 5 (18%) | 19 (68%) | 4 (14%) |
| Cardiac abnormalities | 5 (18%) | 20 (71%) | 3 (11%) |
Abbreviations: ADHD, attention-deficit hyperactivity disorder; ASD, autism spectrum disorder; DD, developmental delays; ID, intellectual disability; ND, no data; OFC, occipitofrontal circumference; SD, standard deviations.