Results: clinical features
| Feature | No. (%) |
|---|---|
| Overgrowth (height and weight) | 46 (59.7%) |
| Macrocephaly | 52 (67.5%) |
| Developmental delay | 65 (88.3%) |
| Intellectual disability | 45 (58%) |
| Autism spectrum disorder | 9 (11.7%) |
| Attention deficithyperactivity disorder | 6 (7.8%) |
| Seizures | 24 (31.2%) |
| Electroencephalogram abnormality | 9 (37.5%) |
| Neurologic findings | 55 (71.4%) |
| Hypotonia | 48 (62.3%) |
| Nystagmus | 11 (14.3%) |
| Increased intracranial pressure | 5 (6.5%) |
| Ophthalmologic findings | 29 (37.7%) |
| Dysphagia | 13 (16.9%) |
| Scoliosis | 27 (35.1%) |
| Joint hypermobility | 23 (29.9%) |
| Hearing loss | 9 (11.7%) |
| Craniosynostosis | 6 (7.8%) |