Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_175876.4:c.1819_1820del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619076.1.1 | Palestine | Global developmental delay; Developmental regression; Seizure; Microcephaly; Death in infancy | Female | Yes | Yes | |
| 619076.1.2 | Palestine | Global developmental delay; Developmental regression; Seizure; Microcephaly | Female | Yes | Yes | Sister of 619076.1.1 |