Rare Disease Library

Partial duplication of chromosome 10 syndrome

Partial trisomy of chromosome 10

Partial duplication of chromosome 11 syndrome

Partial trisomy of chromosome 11

Partial duplication of chromosome 16 syndrome

Partial trisomy of chromosome 16

Partial duplication of chromosome 17 syndrome

Partial trisomy of chromosome 17

Partial duplication of chromosome 19 syndrome

Partial trisomy of chromosome 19

Partial duplication of chromosome 2 syndrome

Partial trisomy of chromosome 2

Partial duplication of chromosome 20 syndrome

Partial trisomy of chromosome 20

Partial duplication of chromosome 3 syndrome

Partial trisomy of chromosome 3

Partial duplication of chromosome 4 syndrome

Partial trisomy of chromosome 4

Partial duplication of chromosome 6 syndrome

Partial trisomy of chromosome 6

Partial duplication of chromosome 7 syndrome

Partial trisomy of chromosome 7

Partial duplication of chromosome 8 syndrome

Partial trisomy of chromosome 8

Partial duplication of chromosome X syndrome

Partial trisomy of chromosome X

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Trisomy 8p syndrome

Duplication 8p

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28