Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001887.4:c.171del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
611544.8.2 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity; Esotropia | Male | Yes | Yes | Brother of 611544.8.1 |