Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001080477.4:c.6006_6009del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615145.1.1 | Egypt | Microcornea; Optic disc coloboma; Chorioretinal coloboma | Female | No | Yes | |
615145.1.2 | Egypt | Male | Father of 615145.1.1 |