Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005208.5:c.588_591del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600881.1.2 | Saudi Arabia | Developmental cataract | Male | Yes | Yes | Brother of 600881.1.1. Patient had lens aspiration and anterior vitrectomy in both eyes within the first few months of life for congenital total white cataract. |