Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000784.4:c.1420C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 213700.3.2 | Egypt | Intellectual disability, severe; Abnormality of the face; Leukodystrophy | Female | Yes | Yes | Relative of 213700.3.1 |