Rare Disease Library

Homozygous 2p21 microdeletion syndrome

2p21 contiguous gene deletion syndrome

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

16q22 deletion syndrome

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

22q11.2 deletion syndrome

22q11DS · CATCH 22

2p13.2 microdeletion syndrome

Del(2)(p13.2)

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

6q terminal deletion 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

CADDS

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

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

Greig cephalopolysyndactyly-contiguous gene syndrome

GCP-CGS

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

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

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion 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