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 | |
608980.1.3 | Egypt | Bifid nasal tip; Broad nasal tip; Anteriorly placed anus; Anal stenosis; Rectovaginal fistula; Unilateral renal agenesis; Hypoplastic fifth toenail | Female | Yes | Yes | |
608980.1.4 | Egypt | Oligohydramnios; Bifid nasal tip; Broad nasal tip; Bilateral renal agenesis; Talipes; Neonatal death | Male | Yes | Yes | Sibling of 608980.1.1 |