Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000276.3:c.1672G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 309000.1.1 | Lebanon | Intellectual disability; Developmental cataract; Renal Fanconi syndrome; | Male | Yes | No | Similarly affected brother not genotyped |
| 309000.1.2 | Lebanon | Female | No | Sister of 309000.1.1 |