Rare Disease Library

Partial duplication of chromosome 1 syndrome

Partial trisomy of chromosome 1

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

Partial duplication/triplication of chromosome 5 syndrome

Partial trisomy/tetrasomy of chromosome 5

Partial duplication/triplication of chromosome 9 syndrome

Partial trisomy/tetrasomy of chromosome 9

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

Polysomy of X chromosome syndrome

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Recombinant 8 syndrome

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

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 10 syndrome

Ring chromosome 10 · Ring 10

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 12 syndrome

Ring chromosome 12 · Ring 12

Ring chromosome 13 syndrome

Ring chromosome 13 · Ring 13

Ring chromosome 14 syndrome

Ring chromosome 14 · Ring 14

Ring chromosome 15 syndrome

Ring chromosome 15 · Ring 15

Ring chromosome 16 syndrome

Ring chromosome 16 · Ring 16

Ring chromosome 17 syndrome

Ring chromosome 17 · Ring 17

Ring chromosome 18 syndrome

Ring chromosome 18 · Ring 18

Ring chromosome 19 syndrome

Ring chromosome 19 · Ring 19

Ring chromosome 2 syndrome

Ring chromosome 2 · Ring 2

Ring chromosome 20 syndrome

Ring chromosome 20 · Ring 20

Ring chromosome 21 syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 3 syndrome

Ring chromosome 3 · Ring 3

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 5 syndrome

Ring chromosome 5 · Ring 5

Ring chromosome 6 syndrome

Ring chromosome 6 · Ring 6

Ring chromosome 7 syndrome

Ring 7 · Ring chromosome 7

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Ring chromosome 9 syndrome

Ring chromosome 9 · Ring 9

Ring chromosome syndrome

Ring chromosome Y syndrome

r(Y) · Ring chromosome Y

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

Sex-chromosome anomaly syndrome

Allosome anomaly

Smith-Magenis syndrome

17p11.2 microdeletion syndrome