Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024513.3:c.449T>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610019.2.1 | Saudi Arabia | Developmental cataract; Posterior capsular cataract | Female | No | Yes | |
610019.2.2 | Saudi Arabia | Male | Father of 610019.2.1 |