Male
No
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001080424.1:c.974del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
618505.2 | United Arab Emirates | Global developmental delay; Hyperactivity | Male | No | Yes | de novo mutation |