Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018192.4:c.297del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614292.2.1 | Saudi Arabia | Severely reduced visual acuity; Juvenile cataract; Ectopia lentis | Female | Yes | Yes | Proband |
| 614292.2.2 | Saudi Arabia | Juvenile cataract; Ectopia lentis; Mildly reduced visual acuity | Female | Yes | Yes | Sister of 614292.2.1 |
| 614292.2.4 | Saudi Arabia | Juvenile cataract; Ectopia lentis; Mildly reduced visual acuity; Esotropia | Female | Yes | Yes | Sister of 614292.2.1 |