| 619648.1.1 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | | Yes | Patient from 'family 1' in the publication |
| 619648.1.2 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | | Yes | Sister of 619648.1.1 |
| 619648.1.3 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | | Yes | Sister of 619648.1.1 |
| 619648.1.4 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly; Cerebellar vermis hypoplasia; Dilated fourth ventricle | Female | | Yes | Sister of 619648.1.1 |
| 619648.1.5 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Male | | Yes | Brother of 619648.1.1 |
| 619648.1.7 | United Arab Emirates | | Female | | | Mother of 619648.1.1 |
