Table 1.
Overview of clinical phenotypes for all 273 subjects
| Affected subjects | Frequency in cohort | |
|---|---|---|
| Gender | ||
| Male | 159 | 58.2% |
| Female | 114 | 41.8% |
| Co-Segregation | ||
| De novo | 184 | 67.4% |
| Unknown | 75 | 27.5% |
| Inherited, segregating | 14 | 5.1% |
| array-CGH analyses | ||
| Normal | 139 | 50.9% |
| VUS | 32 | 11.7% |
| Not Performed | 102 | 37.4% |
| Abdomen defects | 54 | 19.8% |
| Cardiovascular defects | 41 | 15.0% |
| Eye defects | 54 | 19.8% |
| Hearing defects | 52 | 19.0% |
| Genitourinary defects | 50 | 18.3% |
| Growth defects | 64 | 23.4% |
| Head/Neck/Craniofacial defects | 140 | 51.3% |
| Integument defects | 50 | 18.3% |
| Limb defects | 57 | 20.9% |
| Musculature defects | 71 | 26.0% |
| Neurological defects | 219 | 80.2% |
| Behavior disorders | 51 | 18.7% |
| Developmental delay | 159 | 58.2% |
| Epilepsy | 51 | 18.7% |
| Hypotonia | 41 | 15.0% |
| ASD/autistic features | 31 | 11.4% |
| High functioning ASD | 4 | 1.5% |
| Respiratory defects | 30 | 11.0% |
| Skeletal defects | 116 | 42.4% |
Clinical description was converted for all 273 subjects into standardized terms using Human Phenotype Ontology (HPO)18, which allowed systematic association with broad phenotypic categories for each enrolled subject.