Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015062.5:c.1825C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617462.1.1 | Egypt | Intellectual disability, severe; Seizure; Cerebral atrophy; Leukodystrophy; Macular degeneration; Abnormal retinal morphology | Female | Yes | Yes | Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. |