Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004425.4:c.70+1G>C | 2 |
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 |
247100.4.4 | Palestine | Male | Yes | Yes | Unaffected brother of 247100.4.1 | |
247100.4.5 | Palestine | Female | Yes | Yes | Unaffected sister 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 |