Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_014974.3:c.3283C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
611380.1.1 | Saudi Arabia | Short stature; Brachydactyly; Aplasia/Hypoplasia of toe | Female | Yes | Yes |