Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000309.5:c.1015G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 176200.1.1 | Lebanon | Severe photosensitivity; Seizure; Neurodevelopmental delay; Increased fecal porphyrin | Female | Yes | Yes | Other affected relatives |
| 176200.1.2 | Lebanon | Severe photosensitivity; Seizure; Neurodevelopmental delay; Increased fecal porphyrin | Male | Yes | Yes | Maternal uncle of 176200.1.1 |
| 176200.1.3 | Lebanon | Female | Mother of 176200.1.1 |