Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000445.5:c.913C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
612138.1.1 | Lebanon | Abnormal blistering of the skin; Aplasia cutis congenita on trunk or limbs; Neonatal death | Male | No | Yes | |
612138.1.2 | Lebanon | Female | No | Yes | Mother of 612138.1.1 |