Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173654.3:c.1130G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615297.2.2 | Egypt | Absent distal phalanges; Aplasia of the middle phalanx of the 4th toe; Aplasia/Hypoplasia of the middle phalanges of the hand | Male | Yes | Yes | Relative of 615297.2.1 |
| 615297.2.3 | Egypt | Absent distal phalanges; Aplasia of the middle phalanx of the 4th toe; Aplasia/Hypoplasia of the middle phalanges of the hand | Female | Yes | Yes | Relative of 615297.2.1 |