Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001013663.2:c.365G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
620747.1.2 | Egypt | Intellectual disability, mild | Male | Yes | Yes | Relative of 620747.1.1 |