Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003482.3:c.10658G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 602113.1.1 | Palestine | Choanal atresia; Lacrimal duct aplasia; Conductive hearing impairment; Hypoplastic nipples; Thyroid hypoplasia | Male | Yes | Yes | |
| 602113.1.3 | Palestine | Male | Yes | Father of 602113.1.1. Paternal mosaicism of variant suspected |