Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.5:c.749G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.5.1 | Lebanon | Global developmental delay; Cherry red spot of the macula; Paralysis | Male | Yes | Yes | Sibling of 272800.5.2 |
| 272800.5.3 | Lebanon | ; | Female | Yes | Mother of 272800.5.1 and 272800.5.2 | |
| 272800.5.4 | Lebanon | ; | Male | Yes | Father of 272800.5.1 and 272800.5.2 |