Rare Disease Library

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

14q24.1q24.3 microdeletion syndrome

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

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

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

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

3p25.3 microdeletion syndrome

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

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

9q31.1q31.3 microdeletion syndrome

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

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Jacobsen syndrome

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

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

Xp22.3 microdeletion syndrome

Del(X)(p23)

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)