Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005029.3:c.650delG | 4 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610623.G.1.1 | Lebanon | Reduced visual acuity; Posterior polar cataract ; | Yes | No | 23 affected heterozygotes in the same family |