Table 1. Clinical features of Kleefstra syndrome shared by the three affected brothers of family MRQ14.
| Clinical features | Patient-IV:1 (Proband) | Patient-IV:2 | Patient-IV:3 |
| High birth weight | no | no | no |
| Microcephaly | no | no | no |
| Synophrys | yes | yes | yes |
| Unusual shape of the eyebrows | yes | yes | yes |
| Midface hypoplasia | yes | yes | yes |
| Full everted lower lip | yes | yes | yes |
| Cupid bowed upper lip | yes | yes | yes |
| Protruding tongue | yes | yes | yes |
| Prognathism | yes | yes | yes |
| Short stature | yes | yes | yes |
| Overweight (BMI>25) | no | no | no |
| DD/ID | yes (severe) | yes (severe) | yes (severe) |
| Heart defect | no | no | no |
| Genital anomaly | yes | yes | yes |
| Renal anomaly (including VUR) | no | no | no |
| Recurrent infections | yes | yes | yes |
| Hearing deficit | no | no | no |
| Gastro-esophageal reflux | no | no | no |
| Epilepsy | yes | yes | yes |
| Behavioral/psychiatric problems | yes | yes | yes |
| Anomalies on brain imaging | no | not performed | not performed |
| Tracheomalacia | no | no | no |
| Umbilical/inguinal hernia | no | no | no |
| Anal atresia | no | no | no |
| Musculoskeletal anomaly | yes | yes | yes |
| Respiratory complications | no | no | no |
| Hypertelorism | yes | yes | yes |
BMI, body mass index; DD, developmental disability; ID, intellectual disability, VUR, vesico-ureteric reflux