Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001099922.3:c.3221A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 309530.1.G | Arab | Intellectual disability, moderate | Male | Yes | No | Family with 4 affected male siblings |