Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016464.5:c.128+5G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614465.1.2 | United Arab Emirates | Oculomotor apraxia; Chorioretinal coloboma; | Female | Yes | Yes | Sibling of 614465.1.1 |