Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000059.4:c.9152del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613029.2 | Saudi Arabia | CNS hypomyelination; Abnormal corpus callosum morphology; Abnormal cortical gyration; Mild malformation of cortical development; Chromosomal breakage induced by ionizing radiation; Anorectal anomaly; Global developmental delay; Neuroblastoma; Mixed hypo- and hyperpigmentation of the skin | Female | No | Yes |