Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000071.3:c.770C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236200.3.1 | Sudan | Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Vascular tortuosity; Seizure | Male | Yes | Yes | Patient IV-2 from Family 1 in the publication |
| 236200.3.3 | Sudan | Female | Yes | Mother of 236200.3.1 |