Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005029.3:c.650delG | 23 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610623.G.1.2 | Lebanon | Bilateral microphthalmos; Corneal opacity; Profound global developmental delay; ; | Male | Yes | No | 2 affected homozygote brothers. Same family as 610623.G.1.1 |