Unknown
No
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 |
|---|---|---|---|---|---|---|
| 618142.3 | Saudi Arabia | Microcephaly; Lissencephaly; Diffuse white matter abnormalities ; Hypoplasia of the corpus callosum; Widened subarachnoid space ; Small posterior fossa; Abnormal facial shape; Abnormality of the skeletal system; Unilateral renal agenesis; Ambiguous genitalia; Micropenis | Male | Yes | No |