Male
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 |
---|---|---|---|---|---|---|
615751.2.1 | Oman; United Arab Emirates | Hyperammonemia; Lactic acidosis; Failure to thrive; Microcephaly; Elevated circulating creatine kinase concentration; Severe global developmental delay | Female | Yes | Patient's parents belong to the same tribe | |
615751.2.2 | Oman; United Arab Emirates | Hyperammonemia; Lactic acidosis; Failure to thrive; Elevated circulating creatine kinase concentration; Global developmental delay | Female | Yes | Relative of 615751.2.1 |