Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001085427.2:c.827C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250100.2.1 | Lebanon | Global developmental delay; Behavioral abnormality | Yes | Yes | Sister of 250100.2.2 and 250100.2.3 | |
| 250100.2.2 | Lebanon | Global developmental delay; Behavioral abnormality | Female | Yes | Yes |