Rare Disease Library

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Isochromosome Y syndrome

Isochromosomy Yp syndrome

Isochromosomy Yq syndrome

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

Polysomy of X chromosome 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

Sex-chromosome anomaly syndrome

Allosome anomaly

Uniparental disomy of chromosome X syndrome

UPD(X)

X and Y chromosomal anomaly syndrome