Female
Yes
Yes
| 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 |
|---|---|---|---|---|---|---|
| 236200.7.1 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Abducens palsy; Cerebral dysmyelination | Male | No | Yes | Patient IV-2 from Family 5 in the publication |
| 236200.7.3 | Saudi Arabia | Male | Yes | Yes | Brother of 236200.7.1 | |
| 236200.7.4 | Saudi Arabia | Male | Father of 236200.7.1 | |||
| 236200.7.5 | Saudi Arabia | Female | Mother of 236200.7.1 |