Rare Disease Library

Hereditary neuropathy with liability to pressure palsies

Current pressure-sensitive neuropathy · HNPP

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

16p11.2p12.2 microdeletion syndrome

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

22q11.2 deletion syndrome

22q11DS · CATCH 22

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

Homozygous 2p21 microdeletion syndrome

2p21 contiguous gene deletion syndrome

PMP22-RAI1 contiguous gene duplication syndrome

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

Smith-Magenis syndrome

17p11.2 microdeletion syndrome