Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016464.5:c.128+5G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614465.2.2 | United Arab Emirates | Polydactyly | Male | Yes | Yes | Sibling of 614465.2.1 |
614465.2.3 | United Arab Emirates | Death in childhood | Male | Yes | Yes | Sibling of 614465.2.1 |