Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000142.5:c.1620C>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 146000.3.2 | Saudi Arabia | Short stature; Delayed speech and language development; Macrocephaly; Prominent forehead | Male | Yes | No | Relative of 146000.3.1 |