Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014324.5:c.877T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614307.1.1 | United Arab Emirates | Specific learning disability; Cholelithiasis; Abnormal electroretinogram; Cataract | Male | Yes | Yes | |
| 614307.1.2 | United Arab Emirates | Specific learning disability; Cholelithiasis; Abnormal electroretinogram; Cataract | Female | Yes | Yes | Sibling of 614307.1.1 |