Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000071.3:c.1006C>T | 2 | 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 | |
| 236200.9.3 | Saudi Arabia | Male | Father of 236200.9.1 | |||
| 236200.9.4 | Saudi Arabia | Female | Mother of 236200.9.1 |