Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| CLN3, 6-KB DEL | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204200.3.1 | Morocco | Visual loss; Retinal degeneration; Seizure; Progressive forgetfulness; Vacuolated lymphocytes | Male | No | Yes | Large 6 kb deletion |
| 204200.3.2 | Morocco | Unknown | Yes | Yes | Unaffected sibling of 204200.3.1 | |
| 204200.3.3 | Morocco | Unknown | Yes | Yes | Unaffected sibling of 204200.3.1 | |
| 204200.3.4 | Morocco | Unknown | Yes | Yes | Unaffected sibling of 204200.3.1 | |
| 204200.3.5 | Morocco | Unknown | Yes | Yes | Unaffected sibling of 204200.3.1 | |
| 204200.3.6 | Morocco | Unknown | Yes | Yes | Unaffected sibling of 204200.3.1 | |
| 204200.3.8 | Morocco | Female | Yes | Unaffected mother of 204200.3.1 |