Table 1 PWS collected genotypes and relative ORPHA codes
From: The Italian registry for patients with Prader–Willi syndrome
PWS genotype | # ORPHA code |
|---|---|
By means of chr 15q11q13 paternal deletion | 98793 |
By means of chr 15q11q13, type 1 paternal deletion | 177901 |
By means of chr 15q11q13, type2 paternal deletion | 177904 |
By means of chr 15 uniparental maternal disomy | 98754 |
By means of a imprinting center mutation | 177910 |
By means of a point mutation | 398069 |
By means of a chromosomal translocation | 177907 |