Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_144966.5:c.2722del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608980.1.1 | Egypt | Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Unilateral renal agenesis; Hypoplastic fifth toenail | Female | Yes | Yes | |
| 608980.1.2 | Egypt | Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Unilateral renal agenesis; Hypoplastic fifth toenail | Male | Yes | Yes | Sibling of 608980.1.1 |
| 608980.1.3 | Egypt | Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Rectovaginal fistula; Unilateral renal agenesis; Hypoplastic fifth toenail | Female | Yes | Yes |