Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000142.5:c.1138G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 100800.4 | United Arab Emirates | Delayed speech and language development; Short stature; Relative macrocephaly | Male | Yes | De novo mutation | |
| 100800.5 | United Arab Emirates | Short stature; Frontal bossing; Trigonocephaly; Rhizomelia; Osteopenia; Kyphosis | Male | No | De novo mutation | |
| 100800.6 | United Arab Emirates | Short stature; Macrocephaly | Female | No | De novo mutation | |
| 100800.7 | United Arab Emirates | Depressed nasal bridge; Relative macrocephaly; Frontal bossing; Midface retrusion | Female | Mutation is de novo. Patient's parents are from the same tribe. | ||
| 100800.8 | United Arab Emirates | Macrocephaly; Short stature; Global developmental delay; Midface retrusion | Female | Yes | De novo mutation |