Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001079818.3:c.140C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619817.1.1 | United Arab Emirates | Aplasia cutis congenita; Microtia; Abnormal blistering of the skin; Thrombocytopenia; Neutropenia; Neonatal death | Male | No | Yes | |
| 619817.1.3 | United Arab Emirates | Female | No | Mother of 226730.1.1 | ||
| 619817.1.4 | United Arab Emirates | Male | No | Uncle of 226730.1.1 | ||
| 619817.1.5 | United Arab Emirates | Male | No | Paternal grandfather of 226730.1.1 | ||
| 619817.1.6 | United Arab Emirates | Male | No | Maternal grandfather of 226730.1.1, brother of 226730.1.5 |