Rare Disease Library

Monosomy 22 syndrome

Del(22) · Deletion 22

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

10q22.3q23.3 microdeletion syndrome

Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

16q22 deletion syndrome

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

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)

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

Autosomal monosomy syndrome

Autosomal deletion

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

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

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Jacobsen syndrome

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

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

OBSOLETE: Deletion 20p

OBSOLETE: Monosomy 20p

OBSOLETE: Deletion 4q

OBSOLETE: Monosomy 4q

Partial deletion of the short arm of chromosome 20 syndrome

Partial deletion of chromosome 20p · Partial monosomy of the short arm of chromosome 20

Phelan-McDermid syndrome due to 22q13.3 deletion

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

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Recombinant 8 syndrome

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

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)