Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018136.5:c.5064del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608716.11.1 | Saudi Arabia | Polymicrogyria; Global developmental delay | Male | Yes | Yes | |
608716.11.3 | Saudi Arabia | Polymicrogyria; Global developmental delay | Female | Yes | Yes | Sibling of 608716.11.1 |