Table 2.
Clinical features of individuals in the H4 cohort
| Clinical feature | Proportion (percentage) |
|---|---|
| Neurodevelopment | |
| Intellectual disability | 29/29 (100%) |
| Developmental delay | 29/29 (100%) |
| Hypotonia | 10/29 (34%) |
| Seizures | 5/29 (17%) |
| Autism | 5/29 (17%) |
| Ataxia | 4/29 (14%) |
| Growth | |
| Microcephaly—prenatal onset | 2/19 (11%) |
| Microcephaly—postnatal | 20/29 (69%) |
| Short stature | 11/29 (38%) |
| Failure to thrive | 11/29 (38%) |
| Skeletal features | |
| Craniosynostosis | 2/29 (7%) |
| Digit anomalies | 4/29 (14%) |
| Vertebral anomalies | 4/27 (15%) |
| Facial features | |
| Hypertelorism | 5/29 (17%) |
| Upslanting palpebral fissures | 3/29 (10%) |
| Broad nasal tip | 11/29 (38%) |
| Thin upper lip/vermillion | 4/29 (14%) |
| Teeth anomalies | 6/29 (21%) |
| Other features | |
| Recurrent infections | 4/29 (14%) |
| Visual impairment | 17/28 (61%) |
| Hearing impairment | 7/29 (24%) |
| Age range | 10 months – 52 years (median 10 years 11 months) |