Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024513.4:c.2505del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610019.1.1 | Saudi Arabia | Developmental cataract | Male | Yes | Yes | Proband |
610019.1.3 | Saudi Arabia | Male | Father of 610019.1.1 | |||
610019.1.4 | Saudi Arabia | Female | Mother of 610019.1.1 |