Rare Disease Library

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Christianson syndrome

X-linked Angelman-like syndrome

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Inverted duplicated chromosome 15 syndrome

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

Isochromosome Y syndrome

Jacobsen syndrome

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

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

Partial deletion of the long arm of chromosome 16 syndrome

Partial deletion of chromosome 16q · Partial monosomy of chromosome 16q

Partial duplication of chromosome 16 syndrome

Partial trisomy of chromosome 16

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

Sex-chromosome number anomaly syndrome

Allosome number anomaly

X and Y chromosomal anomaly syndrome

X chromosome number anomaly syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked Alport syndrome

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

Y chromosome number anomaly syndrome