Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_020812.4:c.1362_1365del | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614219.2.2 | Saudi Arabia | Global developmental delay; Seizure; Blindness; Microcephaly | Male | Yes | Yes | Relative of 614219.2.1 |