Rare Disease Library

2q37 microdeletion syndrome

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

11q22.2q22.3 microdeletion syndrome

Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1p31p32 microdeletion syndrome

Del(1)(p31p32) · Monosomy 1p31p32

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

1q41q42 microdeletion syndrome

Del(1)(q41q42) · Monosomy 1q41q42

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

20p13 microdeletion syndrome

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

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

21q22.11q22.12 microdeletion syndrome

Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12

22q11.2 deletion syndrome

22q11DS · CATCH 22

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

3p25.3 microdeletion syndrome

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

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

6q25.2q25.3 microdeletion syndrome

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

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

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

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

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

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

Del(15)(q14) · Monosomy 15q14

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24