Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002435.2:c.863C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
602579.2.1 | United Arab Emirates | Hyperinsulinemic hypoglycemia; Elevated hepatic transaminase; Hypoalbuminemia; Hepatomegaly; | Female | No | Yes | |
602579.2.2 | United Arab Emirates | ; | Female | Mother of 602579.2.1 |