Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001739.2:c.59G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
215751.7.1 | Oman; United Arab Emirates | Hyperammonemia; Elevated circulating creatine kinase concentration | Male | Yes | Parents belong to the same tribe | |
215751.7.3 | Oman; United Arab Emirates | Elevated circulating creatine kinase concentration | Female | Yes | Relative of 215751.7.1 | |
215751.7.4 | Oman; United Arab Emirates | Hyperammonemia; Elevated circulating creatine kinase concentration; Failure to thrive | Male | Yes | Relative of 215751.7.1 |