Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001012759.2:c.873G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618142.2.1 | Saudi Arabia | Microcephaly ; Agenesis of corpus callosum; Unilateral renal agenesis; Abnormal heart morphology; Abnormal facial shape | Male | Yes | Yes |