Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000071.3:c.969G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236200.4.1 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Vascular tortuosity; Seizure; Aggressive behavior; Cerebral dysmyelination | Male | No | Patient II-1 from Family 2 in the publication | |
| 236200.4.3 | Saudi Arabia | Female | Mother of 236200.4.1 |