Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016145.4:c.156+1G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 211600.3.1 | Saudi Arabia | Pruritus; Intellectual disability | Female | Yes | Yes | |
| 211600.3.2 | Saudi Arabia | Pruritus; Intellectual disability | Male | Yes | Yes | Brother of 211600.3.1 |