Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017668.3:c.733dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614019.8.1 | Saudi Arabia | Microcephaly; Seizure; Cerebral hypoplasia; Cerebellar hypoplasia; Agenesis of corpus callosum; Babinski sign | Male | Yes | Yes | From Western Saudi Arabia. Patient had an affected sister and parents had three additional pregnancies that resulted in spontaneous abortions |
| 614019.8.3 | Saudi Arabia | Female | Mother of 614019.8.1 |