Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001031709.3:c.215_216delinsT | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
609360.1.1 | Saudi Arabia | Developmental cataract | Female | Yes | Yes | Patient had undergone "bilateral lens aspiration and anterior vitrectomy within the first few months of life". |
609360.1.2 | Saudi Arabia | Developmental cataract | Male | Yes | Yes | Brother of 609360.1.1. Patient had undergone "bilateral lens aspiration and anterior vitrectomy within the first few months of life". |