Table 1.
Demographic characteristics and types of neurological phenotypes included in the study
| Number | Percentage | |
|---|---|---|
| Sex | ||
| Male | 37 | 49.3 |
| Female | 38 | 50.7 |
| Age | ||
| Adult | 12 | 16.0 |
| Pediatric | 63 | 84.0 |
| Neurological phenotypes | ||
| Intellectual disability | 50 | 66.7 |
| Brain malformation | 30 | 40.0 |
| Microcephaly | 19 | 25.3 |
| Macrocephaly | 5 | 6.7 |
| Epilepsy | 31 | 41.3 |
| Hypotonia | 24 | 32.0 |
| Dystonia | 14 | 18.7 |
| Ataxia | 8 | 10.7 |
| Leukoencephalopathy | 4 | 5.3 |
| ASD | 4 | 5.3 |
| ADHD | 3 | 4.0 |
| Hearing loss | 6 | 8.0 |
| Eye disease | 14 | 18.7 |
| Neuropathy | 5 | 6.7 |
| Neuromuscular disorders | 7 | 9.3 |
More than one neurological phenotype may be present in any individual.