Table 1.
Genetic data of the studied cases
| Case numbers | Sex | Age at presentation (years) | Consanguinity | Other similarly affected family members |
|---|---|---|---|---|
| Family 1 | ||||
| Case 1 | F | 17 | + | Affected sibs |
| Case 2 | M | 16 | + | Affected sibs |
| Case 3 | F | 14 | + | Affected sibs |
| Case 4 | F | 13 | + | Affected sibs |
| Family 2 | ||||
| Case 5 | F | 16 | + | Affected sib and history of an affected cousin, offspring of consanguineous parents |
| Case 6 | M | 14 | + | Affected sib and history of an affected cousin |
| Family 3 | ||||
| Case 7 | F | 10 | + | History of two affected cousins, offspring of consanguineous parents |
| Family 4 | ||||
| Case 8 | F | 4 | + | – |
| Family 5 | ||||
| Case 9 | M | 10 | + | – |
| Family 6 | ||||
| Case 10 | M | 3 | + | History of an affected cousin, offspring of consanguineous parents |
| Family 7 | ||||
| Case 11 | F | 8 | + | Affected sib |
| Case 12 | M | 7 | + | Affected sib |
| Family 8 | ||||
| Case 13 | M | 11 | + | History of two affected sibs |
| Family 9 | ||||
| Case 14 | M | 17 | + | Affected sib |
| Case 15 | F | 5 | + | Affected sib |
F female; M male; + positive consanguinity