Rare Disease Library

Distal 16p11.2 microdeletion syndrome

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

16p11.2p12.2 microdeletion syndrome

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

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

Distal 22q11.2 microdeletion syndrome

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

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Jacobsen syndrome

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

Proximal 16p11.2 microdeletion syndrome

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

Proximal 16p11.2 microduplication syndrome

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

WAGR syndrome

Del(11)(p13) · Deletion 11p13