Rare Disease Library

CADDS

Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome

16q22 deletion syndrome

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

22q11.2 deletion syndrome

22q11DS · CATCH 22

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Homozygous 2p21 microdeletion syndrome

2p21 contiguous gene deletion syndrome

Jacobsen syndrome

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

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion syndrome

Xp21 deletion syndrome

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