Rare Disease Library

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

11q22.2q22.3 microdeletion syndrome

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

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)

15q11.2 microdeletion syndrome

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

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

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

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q24.2 microdeletion syndrome

Del(17)(q24)

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

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

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

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

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)

Mesomelia-synostoses syndrome

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

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21