Rare Disease Library

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

10q22.3q23.3 microdeletion syndrome

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

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

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

14q24.1q24.3 microdeletion syndrome

Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3

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

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q23.1q23.2 microdeletion syndrome

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

17q24.2 microdeletion syndrome

Del(17)(q24)

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

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

21q22.11q22.12 microdeletion syndrome

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

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

2q37 microdeletion syndrome

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

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

6q25.2q25.3 microdeletion syndrome

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

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

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

Del(15)(q14) · Monosomy 15q14

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

Del(2)(q24) · Monosomy 2q24

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

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)

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 22 syndrome

Del(22) · Deletion 22