Rare Disease Library

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

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

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q24.2 microdeletion syndrome

Del(17)(q24)

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

21q22.11q22.12 microdeletion syndrome

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

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4q25 proximal deletion syndrome

Proximal del(4)(q25) · Proximal monosomy 4q25

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

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)

Jacobsen syndrome

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

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21