Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152419.2:c.1348del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 252930.1 | United Arab Emirates | Intellectual disability; Attention deficit hyperactivity disorder; Abnormal facial shape; Delayed speech and language development; Aggressive behavior | Male | No | Yes | |
| 252930.3 | United Arab Emirates | Delayed speech and language development; Recurrent otitis media; Attention deficit hyperactivity disorder | Female | Yes | Yes | Paternal cousin with developmental delay and seizures |