Rare Disease Library

16p11.2p12.2 microduplication syndrome

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

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

16p11.2p12.2 microdeletion syndrome

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

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

Distal 16p11.2 microdeletion syndrome

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

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

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