Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004425.4:c.70+1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 247100.4.1 | Palestine | Hoarse voice ; Cataract ; Skin-colored papule ; Hyperkeratosis ; Sparse hair | Female | Yes | Yes | Proband |
| 247100.4.2 | Palestine | Hoarse voice ; Cataract ; Skin-colored papule ; Hyperkeratosis ; Sparse hair | Male | Yes | Yes | Brother of 247100.4.1 |
| 247100.4.3 | Palestine | Hoarse voice | Female | Yes | Yes | Sister of 247100.4.1 |
| 247100.4.4 | Palestine | Male | Yes | Yes | Unaffected brother of 247100.4.1 | |
| 247100.4.6 | Palestine | Male | Yes | Unaffected father of 247100.4.1 | ||
| 247100.4.7 | Palestine | Female | Yes | Unaffected mother of 247100.4.1 |