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 |
---|---|---|---|---|---|---|
617342.2.2 | Saudi Arabia | Intellectual disability | Female | Yes | Yes | Sister of 617342.2.1 |