Rare Disease Library

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

20q11.2 microduplication syndrome

Dup(20)(q11.2)

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

2q13 microdeletion syndrome

del2q13 syndrome

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q37 microdeletion syndrome

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

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

3q29 microduplication syndrome

Trisomy 3q29

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

6q25.1 microdeletion syndrome

6q25.2q25.3 microdeletion syndrome

Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

9q33.3q34.11 microdeletion syndrome

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

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)