Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020212.2:c.280T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209850.1 | Sudan | Delayed speech and language development; Aggressive behavior; Attention deficit hyperactivity disorder | Male | Yes | No | Father with history of delayed speech and aggressive behaviour. Paternal cousin has autism. |
| 209850.3 | Sudan | Autism; Autistic behavior | Female | Yes | Yes | 3 similarly affected siblings |
| 209850.4 | Sudan | Autistic behavior | Male | No | No | |
| 209850.5 | Sudan | Autistic behavior | Male | No | No |