Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004425.4:c.93_94delinsTT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 247100.3.1 | Libya | Hoarse voice ; Yellow papule ; Dry skin; Sparse scalp hair ; Hypoplasia of teeth | Male | Yes | Yes | Proband. He had an affected brother who died at 3 years of age due to respiratory distress. |
| 247100.3.2 | Libya | Unknown | Yes | Yes | Unaffected sibling of 247100.3.1 | |
| 247100.3.3 | Libya | Unknown | Yes | Yes | Unaffected sibling of 247100.3.1 | |
| 247100.3.4 | Libya | Unknown | Yes | Yes | Unaffected sibling of 247100.3.1 | |
| 247100.3.5 | Libya | Unknown | Yes | Yes | Unaffected sibling of 247100.3.1 |