Rare Disease Library

Proximal 16p11.2 microdeletion syndrome

Proximal del(16)(p11.2) · Proximal monosomy 16p11.2

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

15q11.2 microdeletion syndrome

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

16p11.2p12.2 microdeletion syndrome

Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q23.1q23.2 microdeletion syndrome

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

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

22q11.2 deletion syndrome

22q11DS · CATCH 22

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

4q25 proximal deletion syndrome

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

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

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

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

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1