Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000071.3:c.969G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236200.8.2 | Saudi Arabia | Hyperhomocystinemia; Lens subluxation; Scoliosis; Osteoporosis | Female | Yes | Patient II-2 from Family 6 in the publication, sister of 236200.8.1 | |
| 236200.8.3 | Saudi Arabia | Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Asthma | Female | Yes | Patient II-1 from Family 6 in the publication, sister of 236200.8.1 | |
| 236200.8.4 | Saudi Arabia | Female | Mother of 236200.8.1 |