Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022455.4:c.3549dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 117550.3 | United Arab Emirates | Abnormal facial shape; Hypoplasia of the corpus callosum; Periventricular leukomalacia | Female | Yes | De novo mutation | |
| 117550.4 | United Arab Emirates | Global developmental delay; Abnormal facial shape; Overgrowth | Male | No | De novo mutation |