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 |
|---|---|---|---|---|---|---|
| 236200.5.2 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Lens subluxation; Scoliosis; Osteoporosis; Osteoarthritis; Paraparesis; Hypertension; Sinus tachycardia; Vascular tortuosity | Female | Yes | Patient II-2 from Family 3 in the publication, sister of 236200.5.1 | |
| 236200.5.3 | Saudi Arabia | Hyperhomocystinemia; Hypermethioninemia | Female | Yes | Patient II-4 from Family 3 in the publication, sister of 236200.5.1 | |
| 236200.5.4 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Lens subluxation; Osteoporosis; Osteoarthritis | Male | Yes | Patient II-1 from Family 3 in the publication, brother of 236200.5.1 | |
| 236200.5.5 | Saudi Arabia | Hyperhomocystinemia | Female | Patient I-1 from Family 3 in the publication, mother of 236200.5.1 |