Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000142.5:c.1138G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 100800.3 | Saudi Arabia | Global developmental delay; Short stature | Male | No | Yes | de novo mutation |
| 100800.4 | Saudi Arabia | Delayed speech and language development; Short stature; Relative macrocephaly | Male | Yes | De novo mutation | |
| 100800.5 | Saudi Arabia | Short stature; Frontal bossing; Trigonocephaly; Rhizomelia; Osteopenia; Kyphosis | Male | No | De novo mutation | |
| 100800.6 | Saudi Arabia | Short stature; Macrocephaly | Female | No | De novo mutation | |
| 100800.8 | Saudi Arabia | Macrocephaly; Short stature; Global developmental delay; Midface retrusion | Female | Yes | De novo mutation |