Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173630.4:c.764G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614833.2 | Saudi Arabia | Lissencephaly; Hypoplasia of the corpus callosum; Abnormality of neuronal migration; Sloping forehead; Hypertelorism; Coronal craniosynostosis; Hydronephrosis | Male | No | Yes |