Disease | Inheritance pattern | No. of patients |
---|---|---|
Fragile X | X-linked | 3 |
DMD | X-linked | 2 |
Alport syndrome | X-linked | 1 |
Norrie | X-linked | 1 |
NF1 | Autosomal dominant | 2 |
Retinoblastoma | Autosomal dominant | 1 |
Marfan syndrome | Autosomal dominant | 1 |
BRCA2 | Autosomal dominant | 1 |
Kallman syndrome | Autosomal dominant | 1 |
Huntington disease | Autosomal dominant | 2 |
MD2 | Autosomal dominant | 1 |
Achondroplasia | Autosomal dominant | 1 |
Total | Â | 17 |