Female
Yes
No
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 |
---|---|---|---|---|---|---|
611544.3.1 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity | Female | Yes | No | Cataract surgery done at 11 years of age did not improve visual acuity. Patient had an affected brother who was not tested for the variant |