Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000071.3:c.457G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236200.15.1 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Peripheral neuropathy; Attention deficit hyperactivity disorder; Varicose veins; Vascular tortuosity; Abnormal nerve conduction velocity | Male | Yes | Yes | Patient II-1 from Family 13 in the publication |
| 236200.15.3 | Saudi Arabia | Male | Father of 236200.15.1 | |||
| 236200.15.4 | Saudi Arabia | Female | Mother of 236200.15.1 |