Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001199799.1:c.804del | 10 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
609646.G.1.2 | United Arab Emirates | Parents and 3 unaffected siblings of 609646.G.1.1 |