Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003611.3:c.1193_1196del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 311200.2 | Saudi Arabia | Partial agenesis of the corpus callosum; Cerebellar vermis hypoplasia; Hypertelorism; Tented upper lip vermilion; Thin upper lip vermilion; Bifid tongue; Lobulated tongue; Median cleft palate; Hypotonia; Persistent head lag | Female | No | No | Patient's parents are from the same tribe in UAE |