Unknown
Yes
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 | |
247100.3.6 | Libya | Female | Yes | Unaffected mother of 247100.3.1 |