Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_016464.5:c.377-3C>G | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614465.10.1 | Syria | Abnormality of eye movement; Global developmental delay; Dandy-Walker malformation | Female | Yes | Yes |