Rare Disease Library

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

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)

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

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

WAGR syndrome

Del(11)(p13) · Deletion 11p13

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)