Table 3 Clinical features of BRD.
Cardinal features (present in ≥90% of patients) | ||
1. Neurodevelopmental disorder | 49/50 | 98% |
2. Facial Dysmorphism | 47/48 | 98% |
3. Immune dysregulation | 42/45 | 93% |
Major features (present in ≥25% of patients) | ||
• Behavioural anomalies | 29/49 | 59% |
• Dental problems | 18/44 | 41% |
• Brain MRI anomalies | 14/44 | 32% |
• Refraction defects | 12/43 | 28% |
• Feeding problems | 11/40 | 27.5% |
Minor features (present in ≥15% of patients) | ||
• Craniosynostosis | 12/49 | 24.5% |
• Sleeping problems | 11/48 | 23% |
• Hypotonia | 11/48 | 23% |
• Constipation and/or reflux disease | 10/48 | 21% |
• Autistic features | 8/39 | 20.5% |
• Dermatitis and/or eczema | 7/48 | 15% |
