Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000071.3:c.1006C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236200.9.1 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Flexion contracture; Seizure; Dystonia; Spastic paraplegia; Cerebral dysmyelination | Female | Yes | Patient II-1 from Family 7 in the publication | |
| 236200.9.2 | Saudi Arabia | Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Osteoarthritis; Restrictive ventilatory defect; Dystonia | Male | Yes | Patient II-2 from Family 7 in the publication, brother of 236200.9.1 | |
| 236200.9.4 | Saudi Arabia | Female | Mother of 236200.9.1 |